Canonical Allele Identifier: CA2153385616

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984430G= , CM000676.2:g.87984430G=	GRCh38
NC_000014.8:g.88450774G= , CM000676.1:g.88450774G=	GRCh37
NC_000014.7:g.87520527G=	NCBI36
NG_011853.2:g.14134C=
NG_011853.3:g.14134C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.546C= MANE Select	ENSP00000261304.2:p.Ala182=
ENST00000261304.6:c.546C=	ENSP00000261304.2:p.Ala182=
ENST00000393568.8:c.477C=	ENSP00000377198.4:p.Ala159=
ENST00000393569.6:c.468C=	ENSP00000377199.2:p.Ala156=
ENST00000474294.6:n.536C=
ENST00000544807.6:c.378C=	ENSP00000437513.2:p.Ala126=
ENST00000554372.5:c.*295C=	ENSP00000451884.1:n.*295C=
ENST00000554916.5:n.425C=
ENST00000556261.5:n.247C=
ENST00000557316.5:c.546C=	ENSP00000452314.1:p.Ala182=
ENST00000622264.4:c.536C=
NM_000153.3:c.546C=	NP_000144.2:p.Ala182=
NM_001201401.1:c.477C=	NP_001188330.1:p.Ala159=
NM_001201402.1:c.468C=	NP_001188331.1:p.Ala156=
XM_011536618.1:c.378C=	XP_011534920.1:p.Ala126=
XM_011536618.2:c.378C=	XP_011534920.1:p.Ala126=
NM_000153.4:c.546C= MANE Select	NP_000144.2:p.Ala182=
NM_001201401.2:c.477C=	NP_001188330.1:p.Ala159=
NM_001201402.2:c.468C=	NP_001188331.1:p.Ala156=