Canonical Allele Identifier: CA7297224

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968359T>G , CM000676.2:g.87968359T>G	GRCh38
NC_000014.8:g.88434703T>G , CM000676.1:g.88434703T>G	GRCh37
NC_000014.7:g.87504456T>G	NCBI36
NG_011853.2:g.30205A>C
NG_011853.3:g.30205A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.884A>C MANE Select	NP_000144.2:p.Asn295Thr
ENST00000261304.7:c.884A>C MANE Select	ENSP00000261304.2:p.Asn295Thr
NM_000153.3:c.884A>C	NP_000144.2:p.Asn295Thr
NM_001201401.1:c.815A>C	NP_001188330.1:p.Asn272Thr
NM_001201401.2:c.815A>C	NP_001188330.1:p.Asn272Thr
NM_001201402.1:c.806A>C	NP_001188331.1:p.Asn269Thr
NM_001201402.2:c.806A>C	NP_001188331.1:p.Asn269Thr
ENST00000261304.6:c.884A>C	ENSP00000261304.2:p.Asn295Thr
ENST00000393568.8:c.815A>C	ENSP00000377198.4:p.Asn272Thr
ENST00000393569.6:c.806A>C	ENSP00000377199.2:p.Asn269Thr
ENST00000474294.6:n.874A>C
ENST00000544807.6:c.716A>C	ENSP00000437513.2:p.Asn239Thr
ENST00000555000.5:c.251A>C	ENSP00000450472.1:p.Asn84Thr
ENST00000557316.5:c.*282A>C	ENSP00000452314.1:n.*282A>C
ENST00000622264.4:c.874A>C
XM_011536618.1:c.716A>C	XP_011534920.1:p.Asn239Thr
XM_011536618.2:c.716A>C	XP_011534920.1:p.Asn239Thr