Canonical Allele Identifier: CA390747929

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434749T>G (hg19) ; chr14:g.87968405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968405T>G , CM000676.2:g.87968405T>G	GRCh38
NC_000014.8:g.88434749T>G , CM000676.1:g.88434749T>G	GRCh37
NC_000014.7:g.87504502T>G	NCBI36
NG_011853.2:g.30159A>C
NG_011853.3:g.30159A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.838A>C MANE Select	ENSP00000261304.2:p.Asn280His
ENST00000261304.6:c.838A>C	ENSP00000261304.2:p.Asn280His
ENST00000393568.8:c.769A>C	ENSP00000377198.4:p.Asn257His
ENST00000393569.6:c.760A>C	ENSP00000377199.2:p.Asn254His
ENST00000474294.6:n.828A>C
ENST00000477716.3:n.593A>C
ENST00000544807.6:c.670A>C	ENSP00000437513.2:p.Asn224His
ENST00000555000.5:c.205A>C	ENSP00000450472.1:p.Asn69His
ENST00000557316.5:c.*236A>C	ENSP00000452314.1:n.*236A>C
ENST00000622264.4:c.828A>C
NM_000153.3:c.838A>C	NP_000144.2:p.Asn280His
NM_001201401.1:c.769A>C	NP_001188330.1:p.Asn257His
NM_001201402.1:c.760A>C	NP_001188331.1:p.Asn254His
XM_011536618.1:c.670A>C	XP_011534920.1:p.Asn224His
XM_011536618.2:c.670A>C	XP_011534920.1:p.Asn224His
NM_000153.4:c.838A>C MANE Select	NP_000144.2:p.Asn280His
NM_001201401.2:c.769A>C	NP_001188330.1:p.Asn257His
NM_001201402.2:c.760A>C	NP_001188331.1:p.Asn254His