Canonical Allele Identifier: CA390771646

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87992968A>G , CM000676.2:g.87992968A>G	GRCh38
NC_000014.8:g.88459312A>G , CM000676.1:g.88459312A>G	GRCh37
NC_000014.7:g.87529065A>G	NCBI36
NG_011853.2:g.5596T>C
NG_011853.3:g.5596T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.195+2T>C MANE Select	NP_000144.2:n.195+2T>C
ENST00000261304.7:c.195+2T>C MANE Select	ENSP00000261304.2:n.195+2T>C
NM_000153.3:c.195+2T>C	NP_000144.2:n.195+2T>C
NM_001201401.1:c.195+2T>C	NP_001188330.1:n.195+2T>C
NM_001201401.2:c.195+2T>C	NP_001188330.1:n.195+2T>C
NM_001201402.1:c.117+415T>C	NP_001188331.1:n.117+415T>C
NM_001201402.2:c.117+415T>C	NP_001188331.1:n.117+415T>C
ENST00000261304.6:c.195+2T>C	ENSP00000261304.2:n.195+2T>C
ENST00000393568.8:c.195+2T>C	ENSP00000377198.4:n.195+2T>C
ENST00000393569.6:c.117+415T>C	ENSP00000377199.2:n.117+415T>C
ENST00000474294.6:n.185+2T>C
ENST00000554372.5:c.195+2T>C	ENSP00000451884.1:n.195+2T>C
ENST00000556879.5:c.153+2T>C	ENSP00000452208.1:n.153+2T>C
ENST00000557316.5:c.195+2T>C	ENSP00000452314.1:n.195+2T>C
ENST00000622264.4:c.185+2T>C