Canonical Allele Identifier: CA7297287

Gene: GALC

Linked Data

• dbSNP Id: rs758119122
• ExAC: 14:88442846 A / C
• gnomAD v2: 14-88442846-A-C
• gnomAD v4: 14-87976502-A-C
• MyVariant Identifiers: chr14:g.88442846A>C (hg19) ; chr14:g.87976502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976502A>C , CM000676.2:g.87976502A>C	GRCh38
NC_000014.8:g.88442846A>C , CM000676.1:g.88442846A>C	GRCh37
NC_000014.7:g.87512599A>C	NCBI36
NG_011853.2:g.22062T>G
NG_011853.3:g.22062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-14T>G MANE Select	ENSP00000261304.2:n.622-14T>G
ENST00000261304.6:c.622-14T>G	ENSP00000261304.2:n.622-14T>G
ENST00000393568.8:c.553-14T>G	ENSP00000377198.4:n.553-14T>G
ENST00000393569.6:c.544-14T>G	ENSP00000377199.2:n.544-14T>G
ENST00000474294.6:n.612-14T>G
ENST00000477716.3:n.363T>G
ENST00000544807.6:c.454-14T>G	ENSP00000437513.2:n.454-14T>G
ENST00000554916.5:n.501-14T>G
ENST00000555000.5:c.-12-14T>G	ENSP00000450472.1:n.-12-14T>G
ENST00000557316.5:c.*20-14T>G	ENSP00000452314.1:n.*20-14T>G
ENST00000622264.4:c.612-14T>G
NM_000153.3:c.622-14T>G	NP_000144.2:n.622-14T>G
NM_001201401.1:c.553-14T>G	NP_001188330.1:n.553-14T>G
NM_001201402.1:c.544-14T>G	NP_001188331.1:n.544-14T>G
XM_011536618.1:c.454-14T>G	XP_011534920.1:n.454-14T>G
XM_011536618.2:c.454-14T>G	XP_011534920.1:n.454-14T>G
NM_000153.4:c.622-14T>G MANE Select	NP_000144.2:n.622-14T>G
NM_001201401.2:c.553-14T>G	NP_001188330.1:n.553-14T>G
NM_001201402.2:c.544-14T>G	NP_001188331.1:n.544-14T>G