Canonical Allele Identifier: CA10493558
Community Standard Title: NM_001099922.3(ALG13):c.621A>T (p.Gly207=)
Gene: ALG13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.111708264A>T , CM000685.2:g.111708264A>T GRCh38
NC_000023.10:g.110951492A>T , CM000685.1:g.110951492A>T GRCh37
NC_000023.9:g.110838148A>T NCBI36
NG_016238.1:g.32147A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001099922.3:c.621A>T MANE Select NP_001093392.1:p.Gly207=
ENST00000394780.8:c.621A>T MANE Select ENSP00000378260.3:p.Gly207=
NM_001099922.2:c.621A>T NP_001093392.1:p.Gly207=
NM_001257230.1:c.309A>T NP_001244159.1:p.Gly103=
NM_001257230.2:c.309A>T NP_001244159.1:p.Gly103=
NM_001257231.1:c.387A>T NP_001244160.1:p.Gly129=
NM_001257231.2:c.387A>T NP_001244160.1:p.Gly129=
NM_001257234.1:c.309A>T NP_001244163.1:p.Gly103=
NM_001257234.2:c.309A>T NP_001244163.1:p.Gly103=
NM_001257237.1:c.309A>T NP_001244166.1:p.Gly103=
NM_001257237.2:c.309A>T NP_001244166.1:p.Gly103=
NM_001324292.1:c.621A>T NP_001311221.1:p.Gly207=
NM_001324292.2:c.621A>T NP_001311221.1:p.Gly207=
NM_001324293.1:c.309A>T NP_001311222.1:p.Gly103=
NR_148693.1:n.722A>T
NR_148693.2:n.670A>T
ENST00000251943.8:c.309A>T ENSP00000251943.4:p.Gly103=
ENST00000394780.7:c.621A>T ENSP00000378260.3:p.Gly207=
ENST00000436609.5:c.309A>T ENSP00000392990.2:p.Gly103=
ENST00000470704.1:n.472-701A>T
ENST00000470971.5:c.*148-3411A>T ENSP00000479424.2:n.*148-3411A>T
ENST00000486353.5:c.*252A>T ENSP00000426892.2:n.*252A>T
ENST00000487141.5:c.*15-3411A>T ENSP00000478130.1:n.*15-3411A>T
ENST00000495283.5:c.*486A>T ENSP00000427093.3:n.*486A>T
ENST00000610588.4:c.387A>T ENSP00000479731.1:p.Gly129=
ENST00000621367.4:c.309A>T ENSP00000481509.1:p.Gly103=
ENST00000622997.3:c.*353-4961A>T ENSP00000485420.1:n.*353-4961A>T
ENST00000623144.3:c.*590A>T ENSP00000485279.1:n.*590A>T
ENST00000623148.3:c.639A>T ENSP00000485658.1:n.639A>T
ENST00000623622.2:c.621A>T ENSP00000485624.2:p.Gly207=
ENST00000624161.3:c.*385A>T ENSP00000485181.1:n.*385A>T
ENST00000624881.3:c.*109A>T ENSP00000485093.1:n.*109A>T
ENST00000636363.1:c.621A>T ENSP00000490681.1:p.Gly207=
ENST00000699748.1:c.*590A>T ENSP00000514558.1:n.*590A>T
XM_006724693.2:c.621A>T XP_006724756.1:p.Gly207=
XM_006724693.3:c.621A>T XP_006724756.1:p.Gly207=
XM_006724695.2:c.621A>T XP_006724758.1:p.Gly207=
XM_006724697.2:c.309A>T XP_006724760.2:p.Gly103=
XM_006724697.3:c.309A>T XP_006724760.2:p.Gly103=
XM_006724698.2:c.309A>T XP_006724761.2:p.Gly103=
XM_006724698.3:c.309A>T XP_006724761.2:p.Gly103=
XM_011531028.1:c.621A>T XP_011529330.1:p.Gly207=
XM_011531028.2:c.621A>T XP_011529330.1:p.Gly207=
XM_011531029.1:c.621A>T XP_011529331.1:p.Gly207=
XM_011531030.1:c.621A>T XP_011529332.1:p.Gly207=
XM_011531030.2:c.621A>T XP_011529332.1:p.Gly207=
XM_011531031.1:c.309A>T XP_011529333.1:p.Gly103=
XM_011531032.1:c.309A>T XP_011529334.1:p.Gly103=
XM_011531033.1:c.309A>T XP_011529335.1:p.Gly103=
XM_011531033.3:c.309A>T XP_011529335.1:p.Gly103=
XM_011531034.1:c.12A>T XP_011529336.1:p.Gly4=
XM_011531034.2:c.12A>T XP_011529336.1:p.Gly4=
XM_011531035.1:c.-54-701A>T XP_011529337.1:n.-54-701A>T
XM_017029846.1:c.621A>T XP_016885335.1:p.Gly207=
XM_017029847.1:c.621A>T XP_016885336.1:p.Gly207=
XM_017029848.1:c.621A>T XP_016885337.1:p.Gly207=
XM_017029849.1:c.621A>T XP_016885338.1:p.Gly207=
XM_017029850.2:c.621A>T XP_016885339.1:p.Gly207=
XM_017029851.1:c.-54-701A>T XP_016885340.1:n.-54-701A>T
XM_017029853.1:c.-726A>T XP_016885342.1:n.-726A>T
XM_024452449.1:c.621A>T XP_024308217.1:p.Gly207=
XR_001755726.1:n.697-701A>T
XR_001755727.1:n.697-3411A>T
XR_001755728.1:n.697-9582A>T
XR_938409.1:n.1094A>T