Canonical Allele Identifier: CA7297281

Gene: GALC

Linked Data

• dbSNP Id: rs767189595
• ExAC: 14:88442782 T / C
• gnomAD v2: 14-88442782-T-C
• gnomAD v4: 14-87976438-T-C
• MyVariant Identifiers: chr14:g.88442782T>C (hg19) ; chr14:g.87976438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976438T>C , CM000676.2:g.87976438T>C	GRCh38
NC_000014.8:g.88442782T>C , CM000676.1:g.88442782T>C	GRCh37
NC_000014.7:g.87512535T>C	NCBI36
NG_011853.2:g.22126A>G
NG_011853.3:g.22126A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.672A>G MANE Select	ENSP00000261304.2:p.Ile224Met
ENST00000261304.6:c.672A>G	ENSP00000261304.2:p.Ile224Met
ENST00000393568.8:c.603A>G	ENSP00000377198.4:p.Ile201Met
ENST00000393569.6:c.594A>G	ENSP00000377199.2:p.Ile198Met
ENST00000474294.6:n.662A>G
ENST00000477716.3:n.427A>G
ENST00000544807.6:c.504A>G	ENSP00000437513.2:p.Ile168Met
ENST00000554916.5:n.551A>G
ENST00000555000.5:c.39A>G	ENSP00000450472.1:p.Ile13Met
ENST00000557316.5:c.*70A>G	ENSP00000452314.1:n.*70A>G
ENST00000622264.4:c.662A>G
NM_000153.3:c.672A>G	NP_000144.2:p.Ile224Met
NM_001201401.1:c.603A>G	NP_001188330.1:p.Ile201Met
NM_001201402.1:c.594A>G	NP_001188331.1:p.Ile198Met
XM_011536618.1:c.504A>G	XP_011534920.1:p.Ile168Met
XM_011536618.2:c.504A>G	XP_011534920.1:p.Ile168Met
NM_000153.4:c.672A>G MANE Select	NP_000144.2:p.Ile224Met
NM_001201401.2:c.603A>G	NP_001188330.1:p.Ile201Met
NM_001201402.2:c.594A>G	NP_001188331.1:p.Ile198Met