Canonical Allele Identifier: CA7297283

Gene: GALC

Linked Data

• dbSNP Id: rs369575157
• ExAC: 14:88442806 T / G
• gnomAD v2: 14-88442806-T-G
• gnomAD v3: 14-87976462-T-G
• gnomAD v4: 14-87976462-T-G
• MyVariant Identifiers: chr14:g.88442806T>G (hg19) ; chr14:g.87976462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976462T>G , CM000676.2:g.87976462T>G	GRCh38
NC_000014.8:g.88442806T>G , CM000676.1:g.88442806T>G	GRCh37
NC_000014.7:g.87512559T>G	NCBI36
NG_011853.2:g.22102A>C
NG_011853.3:g.22102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.648A>C MANE Select	ENSP00000261304.2:p.Gln216His
ENST00000261304.6:c.648A>C	ENSP00000261304.2:p.Gln216His
ENST00000393568.8:c.579A>C	ENSP00000377198.4:p.Gln193His
ENST00000393569.6:c.570A>C	ENSP00000377199.2:p.Gln190His
ENST00000474294.6:n.638A>C
ENST00000477716.3:n.403A>C
ENST00000544807.6:c.480A>C	ENSP00000437513.2:p.Gln160His
ENST00000554916.5:n.527A>C
ENST00000555000.5:c.15A>C	ENSP00000450472.1:p.Gln5His
ENST00000557316.5:c.*46A>C	ENSP00000452314.1:n.*46A>C
ENST00000622264.4:c.638A>C
NM_000153.3:c.648A>C	NP_000144.2:p.Gln216His
NM_001201401.1:c.579A>C	NP_001188330.1:p.Gln193His
NM_001201402.1:c.570A>C	NP_001188331.1:p.Gln190His
XM_011536618.1:c.480A>C	XP_011534920.1:p.Gln160His
XM_011536618.2:c.480A>C	XP_011534920.1:p.Gln160His
NM_000153.4:c.648A>C MANE Select	NP_000144.2:p.Gln216His
NM_001201401.2:c.579A>C	NP_001188330.1:p.Gln193His
NM_001201402.2:c.570A>C	NP_001188331.1:p.Gln190His