Canonical Allele Identifier: CA2153385614

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984426G= , CM000676.2:g.87984426G=	GRCh38
NC_000014.8:g.88450770G= , CM000676.1:g.88450770G=	GRCh37
NC_000014.7:g.87520523G=	NCBI36
NG_011853.2:g.14138C=
NG_011853.3:g.14138C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.550C= MANE Select	NP_000144.2:p.Arg184=
ENST00000261304.7:c.550C= MANE Select	ENSP00000261304.2:p.Arg184=
NM_000153.3:c.550C=	NP_000144.2:p.Arg184=
NM_001201401.1:c.481C=	NP_001188330.1:p.Arg161=
NM_001201401.2:c.481C=	NP_001188330.1:p.Arg161=
NM_001201402.1:c.472C=	NP_001188331.1:p.Arg158=
NM_001201402.2:c.472C=	NP_001188331.1:p.Arg158=
ENST00000261304.6:c.550C=	ENSP00000261304.2:p.Arg184=
ENST00000393568.8:c.481C=	ENSP00000377198.4:p.Arg161=
ENST00000393569.6:c.472C=	ENSP00000377199.2:p.Arg158=
ENST00000474294.6:n.540C=
ENST00000544807.6:c.382C=	ENSP00000437513.2:p.Arg128=
ENST00000554372.5:c.*299C=	ENSP00000451884.1:n.*299C=
ENST00000554916.5:n.429C=
ENST00000556261.5:n.251C=
ENST00000557316.5:c.550C=	ENSP00000452314.1:p.Arg184=
ENST00000622264.4:c.540C=
XM_011536618.1:c.382C=	XP_011534920.1:p.Arg128=
XM_011536618.2:c.382C=	XP_011534920.1:p.Arg128=