Canonical Allele Identifier: CA362007585
Gene: SGCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156344529C>T , CM000667.2:g.156344529C>T GRCh38
NC_000005.9:g.155771539C>T , CM000667.1:g.155771539C>T GRCh37
NC_000005.8:g.155704117C>T NCBI36
NG_008693.2:g.479186C>T , LRG_205:g.479186C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.44C>T MANE Select ENSP00000338343.4:p.Pro15Leu
ENST00000337851.8:c.44C>T ENSP00000338343.4:p.Pro15Leu
ENST00000435422.7:c.41C>T ENSP00000403003.2:p.Pro14Leu
ENST00000517913.5:c.44C>T ENSP00000429378.1:p.Pro15Leu
ENST00000524347.2:c.44C>T ENSP00000430794.1:p.Pro15Leu
NM_000337.5:c.44C>T , LRG_205t1:c.44C>T NP_000328.2:p.Pro15Leu
NM_001128209.1:c.41C>T NP_001121681.1:p.Pro14Leu
NM_172244.2:c.44C>T NP_758447.1:p.Pro15Leu
XM_005265966.3:c.44C>T XP_005266023.1:p.Pro15Leu
XM_005265967.1:c.44C>T XP_005266024.1:p.Pro15Leu
XM_006714911.2:c.44C>T XP_006714974.1:p.Pro15Leu
XM_011534621.1:c.41C>T XP_011532923.1:p.Pro14Leu
XR_941123.1:n.254+2924G>A
XM_005265966.5:c.44C>T XP_005266023.1:p.Pro15Leu
XM_005265967.2:c.44C>T XP_005266024.1:p.Pro15Leu
XM_011534621.2:c.41C>T XP_011532923.1:p.Pro14Leu
XM_017009723.2:c.44C>T XP_016865212.1:p.Pro15Leu
XM_017009724.1:c.44C>T XP_016865213.1:p.Pro15Leu
NM_001128209.2:c.41C>T NP_001121681.1:p.Pro14Leu
NM_172244.3:c.44C>T NP_758447.1:p.Pro15Leu
NM_000337.6:c.44C>T MANE Select NP_000328.2:p.Pro15Leu