Canonical Allele Identifier: CA390751480

Gene: GALC

Linked Data

• dbSNP Id: rs1886881874
• gnomAD v4: 14-87984422-T-C
• MyVariant Identifiers: chr14:g.88450766T>C (hg19) ; chr14:g.87984422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984422T>C , CM000676.2:g.87984422T>C	GRCh38
NC_000014.8:g.88450766T>C , CM000676.1:g.88450766T>C	GRCh37
NC_000014.7:g.87520519T>C	NCBI36
NG_011853.2:g.14142A>G
NG_011853.3:g.14142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.554A>G MANE Select	ENSP00000261304.2:p.Tyr185Cys
ENST00000261304.6:c.554A>G	ENSP00000261304.2:p.Tyr185Cys
ENST00000393568.8:c.485A>G	ENSP00000377198.4:p.Tyr162Cys
ENST00000393569.6:c.476A>G	ENSP00000377199.2:p.Tyr159Cys
ENST00000474294.6:n.544A>G
ENST00000544807.6:c.386A>G	ENSP00000437513.2:p.Tyr129Cys
ENST00000554372.5:c.*303A>G	ENSP00000451884.1:n.*303A>G
ENST00000554916.5:n.433A>G
ENST00000556261.5:n.255A>G
ENST00000557316.5:c.554A>G	ENSP00000452314.1:p.Tyr185Cys
ENST00000622264.4:c.544A>G
NM_000153.3:c.554A>G	NP_000144.2:p.Tyr185Cys
NM_001201401.1:c.485A>G	NP_001188330.1:p.Tyr162Cys
NM_001201402.1:c.476A>G	NP_001188331.1:p.Tyr159Cys
XM_011536618.1:c.386A>G	XP_011534920.1:p.Tyr129Cys
XM_011536618.2:c.386A>G	XP_011534920.1:p.Tyr129Cys
NM_000153.4:c.554A>G MANE Select	NP_000144.2:p.Tyr185Cys
NM_001201401.2:c.485A>G	NP_001188330.1:p.Tyr162Cys
NM_001201402.2:c.476A>G	NP_001188331.1:p.Tyr159Cys