Canonical Allele Identifier: CA264703903

Gene: GALC

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.884A>T MANE Select	NP_000144.2:p.Asn295Ile
ENST00000261304.7:c.884A>T MANE Select	ENSP00000261304.2:p.Asn295Ile
NM_000153.3:c.884A>T	NP_000144.2:p.Asn295Ile
NM_001201401.1:c.815A>T	NP_001188330.1:p.Asn272Ile
NM_001201401.2:c.815A>T	NP_001188330.1:p.Asn272Ile
NM_001201402.1:c.806A>T	NP_001188331.1:p.Asn269Ile
NM_001201402.2:c.806A>T	NP_001188331.1:p.Asn269Ile
ENST00000261304.6:c.884A>T	ENSP00000261304.2:p.Asn295Ile
ENST00000393568.8:c.815A>T	ENSP00000377198.4:p.Asn272Ile
ENST00000393569.6:c.806A>T	ENSP00000377199.2:p.Asn269Ile
ENST00000474294.6:n.874A>T
ENST00000544807.6:c.716A>T	ENSP00000437513.2:p.Asn239Ile
ENST00000555000.5:c.251A>T	ENSP00000450472.1:p.Asn84Ile
ENST00000557316.5:c.*282A>T	ENSP00000452314.1:n.*282A>T
ENST00000622264.4:c.874A>T
XM_011536618.1:c.716A>T	XP_011534920.1:p.Asn239Ile
XM_011536618.2:c.716A>T	XP_011534920.1:p.Asn239Ile