Canonical Allele Identifier: CA390753441

Gene: GALC

Linked Data

• ClinVar Variation Id: 552834
• ClinVar RCV Id: RCV000668173
• dbSNP Id: rs1555383892
• gnomAD v4: 14-87988516-G-A
• MyVariant Identifiers: chr14:g.88454860G>A (hg19) ; chr14:g.87988516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988516G>A , CM000676.2:g.87988516G>A	GRCh38
NC_000014.8:g.88454860G>A , CM000676.1:g.88454860G>A	GRCh37
NC_000014.7:g.87524613G>A	NCBI36
NG_011853.2:g.10048C>T
NG_011853.3:g.10048C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.203C>T MANE Select	ENSP00000261304.2:p.Ser68Phe
ENST00000261304.6:c.203C>T	ENSP00000261304.2:p.Ser68Phe
ENST00000393568.8:c.196-309C>T	ENSP00000377198.4:n.196-309C>T
ENST00000393569.6:c.125C>T	ENSP00000377199.2:p.Ser42Phe
ENST00000474294.6:n.193C>T
ENST00000544807.6:c.35C>T	ENSP00000437513.2:p.Ser12Phe
ENST00000554372.5:c.203C>T	ENSP00000451884.1:p.Ser68Phe
ENST00000554916.5:n.82C>T
ENST00000555956.1:n.8C>T
ENST00000556879.5:c.263C>T	ENSP00000452208.1:n.263C>T
ENST00000557316.5:c.203C>T	ENSP00000452314.1:p.Ser68Phe
ENST00000622264.4:c.193C>T
NM_000153.3:c.203C>T	NP_000144.2:p.Ser68Phe
NM_001201401.1:c.196-309C>T	NP_001188330.1:n.196-309C>T
NM_001201402.1:c.125C>T	NP_001188331.1:p.Ser42Phe
XM_011536618.1:c.35C>T	XP_011534920.1:p.Ser12Phe
XM_011536618.2:c.35C>T	XP_011534920.1:p.Ser12Phe
NM_000153.4:c.203C>T MANE Select	NP_000144.2:p.Ser68Phe
NM_001201401.2:c.196-309C>T	NP_001188330.1:n.196-309C>T
NM_001201402.2:c.125C>T	NP_001188331.1:p.Ser42Phe