Canonical Allele Identifier: CA7296917

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941400T>G , CM000676.2:g.87941400T>G	GRCh38
NC_000014.8:g.88407744T>G , CM000676.1:g.88407744T>G	GRCh37
NC_000014.7:g.87477497T>G	NCBI36
NG_011853.2:g.57164A>C
NG_011853.3:g.57164A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1829A>C MANE Select	NP_000144.2:p.Asp610Ala
ENST00000261304.7:c.1829A>C MANE Select	ENSP00000261304.2:p.Asp610Ala
NM_000153.3:c.1829A>C	NP_000144.2:p.Asp610Ala
NM_001201401.1:c.1760A>C	NP_001188330.1:p.Asp587Ala
NM_001201401.2:c.1760A>C	NP_001188330.1:p.Asp587Ala
NM_001201402.1:c.1751A>C	NP_001188331.1:p.Asp584Ala
NM_001201402.2:c.1751A>C	NP_001188331.1:p.Asp584Ala
ENST00000261304.6:c.1829A>C	ENSP00000261304.2:p.Asp610Ala
ENST00000393568.8:c.1760A>C	ENSP00000377198.4:p.Asp587Ala
ENST00000393569.6:c.1751A>C	ENSP00000377199.2:p.Asp584Ala
ENST00000544807.6:c.1661A>C	ENSP00000437513.2:p.Asp554Ala
ENST00000555000.5:c.1196A>C	ENSP00000450472.1:p.Asp399Ala
ENST00000555179.1:c.365A>C
ENST00000557316.5:c.*1227A>C	ENSP00000452314.1:n.*1227A>C
XM_011536618.1:c.1661A>C	XP_011534920.1:p.Asp554Ala
XM_011536618.2:c.1661A>C	XP_011534920.1:p.Asp554Ala