Canonical Allele Identifier: CA390750834

Gene: GALC

Linked Data

• gnomAD v4: 14-87982231-T-C
• MyVariant Identifiers: chr14:g.88448575T>C (hg19) ; chr14:g.87982231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982231T>C , CM000676.2:g.87982231T>C	GRCh38
NC_000014.8:g.88448575T>C , CM000676.1:g.88448575T>C	GRCh37
NC_000014.7:g.87518328T>C	NCBI36
NG_011853.2:g.16333A>G
NG_011853.3:g.16333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.595A>G MANE Select	ENSP00000261304.2:p.Arg199Gly
ENST00000261304.6:c.595A>G	ENSP00000261304.2:p.Arg199Gly
ENST00000393568.8:c.526A>G	ENSP00000377198.4:p.Arg176Gly
ENST00000393569.6:c.517A>G	ENSP00000377199.2:p.Arg173Gly
ENST00000474294.6:n.585A>G
ENST00000544807.6:c.427A>G	ENSP00000437513.2:p.Arg143Gly
ENST00000554372.5:c.*344A>G	ENSP00000451884.1:n.*344A>G
ENST00000554916.5:n.474A>G
ENST00000556261.5:n.296A>G
ENST00000557316.5:c.595A>G	ENSP00000452314.1:p.Arg199Gly
ENST00000622264.4:c.585A>G
NM_000153.3:c.595A>G	NP_000144.2:p.Arg199Gly
NM_001201401.1:c.526A>G	NP_001188330.1:p.Arg176Gly
NM_001201402.1:c.517A>G	NP_001188331.1:p.Arg173Gly
XM_011536618.1:c.427A>G	XP_011534920.1:p.Arg143Gly
XM_011536618.2:c.427A>G	XP_011534920.1:p.Arg143Gly
NM_000153.4:c.595A>G MANE Select	NP_000144.2:p.Arg199Gly
NM_001201401.2:c.526A>G	NP_001188330.1:p.Arg176Gly
NM_001201402.2:c.517A>G	NP_001188331.1:p.Arg173Gly