Canonical Allele Identifier: CA7296939

Gene: GALC

Linked Data

• ClinVar Variation Id: 1126685
• ClinVar RCV Id: RCV001458841 ; RCV003394063
• dbSNP Id: rs421466
• ExAC: 14:88407875 T / C
• gnomAD v2: 14-88407875-T-C
• gnomAD v3: 14-87941531-T-C
• gnomAD v4: 14-87941531-T-C
• MyVariant Identifiers: chr14:g.88407875T>C (hg19) ; chr14:g.87941531T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941531T>C , CM000676.2:g.87941531T>C	GRCh38
NC_000014.8:g.88407875T>C , CM000676.1:g.88407875T>C	GRCh37
NC_000014.7:g.87477628T>C	NCBI36
NG_011853.2:g.57033A>G
NG_011853.3:g.57033A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1698A>G MANE Select	ENSP00000261304.2:p.Val566=
ENST00000261304.6:c.1698A>G	ENSP00000261304.2:p.Val566=
ENST00000393568.8:c.1629A>G	ENSP00000377198.4:p.Val543=
ENST00000393569.6:c.1620A>G	ENSP00000377199.2:p.Val540=
ENST00000544807.6:c.1530A>G	ENSP00000437513.2:p.Val510=
ENST00000555000.5:c.1065A>G	ENSP00000450472.1:p.Val355=
ENST00000555179.1:c.234A>G
ENST00000557316.5:c.*1096A>G	ENSP00000452314.1:n.*1096A>G
NM_000153.3:c.1698A>G	NP_000144.2:p.Val566=
NM_001201401.1:c.1629A>G	NP_001188330.1:p.Val543=
NM_001201402.1:c.1620A>G	NP_001188331.1:p.Val540=
XM_011536618.1:c.1530A>G	XP_011534920.1:p.Val510=
XM_011536618.2:c.1530A>G	XP_011534920.1:p.Val510=
NM_000153.4:c.1698A>G MANE Select	NP_000144.2:p.Val566=
NM_001201401.2:c.1629A>G	NP_001188330.1:p.Val543=
NM_001201402.2:c.1620A>G	NP_001188331.1:p.Val540=