Canonical Allele Identifier: CA390749761

Gene: GALC

Linked Data

• ClinVar Variation Id: 1990612
• ClinVar RCV Id: RCV002801002
• dbSNP Id: rs1886498828
• MyVariant Identifiers: chr14:g.88442819A>G (hg19) ; chr14:g.87976475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976475A>G , CM000676.2:g.87976475A>G	GRCh38
NC_000014.8:g.88442819A>G , CM000676.1:g.88442819A>G	GRCh37
NC_000014.7:g.87512572A>G	NCBI36
NG_011853.2:g.22089T>C
NG_011853.3:g.22089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.635T>C MANE Select	ENSP00000261304.2:p.Met212Thr
ENST00000261304.6:c.635T>C	ENSP00000261304.2:p.Met212Thr
ENST00000393568.8:c.566T>C	ENSP00000377198.4:p.Met189Thr
ENST00000393569.6:c.557T>C	ENSP00000377199.2:p.Met186Thr
ENST00000474294.6:n.625T>C
ENST00000477716.3:n.390T>C
ENST00000544807.6:c.467T>C	ENSP00000437513.2:p.Met156Thr
ENST00000554916.5:n.514T>C
ENST00000555000.5:c.2T>C	ENSP00000450472.1:p.Met1Thr
ENST00000557316.5:c.*33T>C	ENSP00000452314.1:n.*33T>C
ENST00000622264.4:c.625T>C
NM_000153.3:c.635T>C	NP_000144.2:p.Met212Thr
NM_001201401.1:c.566T>C	NP_001188330.1:p.Met189Thr
NM_001201402.1:c.557T>C	NP_001188331.1:p.Met186Thr
XM_011536618.1:c.467T>C	XP_011534920.1:p.Met156Thr
XM_011536618.2:c.467T>C	XP_011534920.1:p.Met156Thr
NM_000153.4:c.635T>C MANE Select	NP_000144.2:p.Met212Thr
NM_001201401.2:c.566T>C	NP_001188330.1:p.Met189Thr
NM_001201402.2:c.557T>C	NP_001188331.1:p.Met186Thr