Canonical Allele Identifier: CA264688579

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87950659A>G , CM000676.2:g.87950659A>G	GRCh38
NC_000014.8:g.88417003A>G , CM000676.1:g.88417003A>G	GRCh37
NC_000014.7:g.87486756A>G	NCBI36
NG_011853.2:g.47905T>C
NG_011853.3:g.47905T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1251T>C MANE Select	NP_000144.2:p.Phe417=
ENST00000261304.7:c.1251T>C MANE Select	ENSP00000261304.2:p.Phe417=
NM_000153.3:c.1251T>C	NP_000144.2:p.Phe417=
NM_001201401.1:c.1182T>C	NP_001188330.1:p.Phe394=
NM_001201401.2:c.1182T>C	NP_001188330.1:p.Phe394=
NM_001201402.1:c.1173T>C	NP_001188331.1:p.Phe391=
NM_001201402.2:c.1173T>C	NP_001188331.1:p.Phe391=
ENST00000261304.6:c.1251T>C	ENSP00000261304.2:p.Phe417=
ENST00000393568.8:c.1182T>C	ENSP00000377198.4:p.Phe394=
ENST00000393569.6:c.1173T>C	ENSP00000377199.2:p.Phe391=
ENST00000544807.6:c.1083T>C	ENSP00000437513.2:p.Phe361=
ENST00000555000.5:c.618T>C	ENSP00000450472.1:p.Phe206=
ENST00000557316.5:c.*649T>C	ENSP00000452314.1:n.*649T>C
XM_011536618.1:c.1083T>C	XP_011534920.1:p.Phe361=
XM_011536618.2:c.1083T>C	XP_011534920.1:p.Phe361=