Canonical Allele Identifier: CA390751913

Gene: GALC

Linked Data

• dbSNP Id: rs774472326
• gnomAD v2: 14-88450861-G-C
• gnomAD v4: 14-87984517-G-C
• MyVariant Identifiers: chr14:g.88450861G>C (hg19) ; chr14:g.87984517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984517G>C , CM000676.2:g.87984517G>C	GRCh38
NC_000014.8:g.88450861G>C , CM000676.1:g.88450861G>C	GRCh37
NC_000014.7:g.87520614G>C	NCBI36
NG_011853.2:g.14047C>G
NG_011853.3:g.14047C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.459C>G MANE Select	ENSP00000261304.2:p.Phe153Leu
ENST00000261304.6:c.459C>G	ENSP00000261304.2:p.Phe153Leu
ENST00000393568.8:c.390C>G	ENSP00000377198.4:p.Phe130Leu
ENST00000393569.6:c.381C>G	ENSP00000377199.2:p.Phe127Leu
ENST00000474294.6:n.449C>G
ENST00000544807.6:c.291C>G	ENSP00000437513.2:p.Phe97Leu
ENST00000554372.5:c.*208C>G	ENSP00000451884.1:n.*208C>G
ENST00000554916.5:n.338C>G
ENST00000556261.5:n.160C>G
ENST00000556879.5:c.519C>G	ENSP00000452208.1:n.519C>G
ENST00000557316.5:c.459C>G	ENSP00000452314.1:p.Phe153Leu
ENST00000622264.4:c.449C>G
NM_000153.3:c.459C>G	NP_000144.2:p.Phe153Leu
NM_001201401.1:c.390C>G	NP_001188330.1:p.Phe130Leu
NM_001201402.1:c.381C>G	NP_001188331.1:p.Phe127Leu
XM_011536618.1:c.291C>G	XP_011534920.1:p.Phe97Leu
XM_011536618.2:c.291C>G	XP_011534920.1:p.Phe97Leu
NM_000153.4:c.459C>G MANE Select	NP_000144.2:p.Phe153Leu
NM_001201401.2:c.390C>G	NP_001188330.1:p.Phe130Leu
NM_001201402.2:c.381C>G	NP_001188331.1:p.Phe127Leu