Canonical Allele Identifier: CA5244963
Gene: GARNL3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127393192T>C , CM000671.2:g.127393192T>C GRCh38
NC_000009.11:g.130155471T>C , CM000671.1:g.130155471T>C GRCh37
NC_000009.10:g.129195292T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373387.9:c.2980T>C MANE Select ENSP00000362485.4:p.Ser994Pro
ENST00000373386.6:c.*378T>C ENSP00000362484.2:n.*378T>C
ENST00000373387.8:c.2980T>C ENSP00000362485.4:p.Ser994Pro
ENST00000435213.6:c.2914T>C ENSP00000396205.2:p.Ser972Pro
ENST00000481242.5:n.4470T>C
ENST00000496711.5:n.1512T>C
NM_001286779.1:c.2914T>C NP_001273708.1:p.Ser972Pro
NM_032293.4:c.2980T>C NP_115669.3:p.Ser994Pro
NR_104591.1:n.3242T>C
XM_005252267.2:c.3169T>C XP_005252324.1:p.Ser1057Pro
XM_005252268.1:c.3049T>C XP_005252325.1:p.Ser1017Pro
XM_011519086.1:c.3127T>C XP_011517388.1:p.Ser1043Pro
XM_011519087.1:c.3127T>C XP_011517389.1:p.Ser1043Pro
XM_011519088.1:c.3127T>C XP_011517390.1:p.Ser1043Pro
XM_011519089.1:c.3049T>C XP_011517391.1:p.Ser1017Pro
XM_011519090.1:c.2473T>C XP_011517392.1:p.Ser825Pro
XM_005252267.3:c.3169T>C XP_005252324.1:p.Ser1057Pro
XM_005252268.2:c.3049T>C XP_005252325.1:p.Ser1017Pro
XM_011519086.3:c.3127T>C XP_011517388.1:p.Ser1043Pro
XM_011519087.2:c.3127T>C XP_011517389.1:p.Ser1043Pro
XM_011519089.3:c.3049T>C XP_011517391.1:p.Ser1017Pro
XM_011519090.2:c.2473T>C XP_011517392.1:p.Ser825Pro
XM_017015202.1:c.3022T>C XP_016870691.1:p.Ser1008Pro
XM_024447693.1:c.3049T>C XP_024303461.1:p.Ser1017Pro
XM_024447694.1:c.2473T>C XP_024303462.1:p.Ser825Pro
XM_024447695.1:c.2473T>C XP_024303463.1:p.Ser825Pro
XM_024447696.1:c.2473T>C XP_024303464.1:p.Ser825Pro
XR_001746389.1:n.3124T>C
XR_002956936.1:n.2353A>G
NM_032293.5:c.2980T>C MANE Select NP_115669.3:p.Ser994Pro
NM_001286779.2:c.2914T>C NP_001273708.1:p.Ser972Pro
NR_104591.2:n.2945T>C