Canonical Allele Identifier: CA487366690

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88454808A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988464A>G , CM000676.2:g.87988464A>G	GRCh38
NC_000014.8:g.88454808A>G , CM000676.1:g.88454808A>G	GRCh37
NC_000014.7:g.87524561A>G	NCBI36
NG_011853.2:g.10100T>C
NG_011853.3:g.10100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.255T>C MANE Select	ENSP00000261304.2:p.Tyr85=
ENST00000261304.6:c.255T>C	ENSP00000261304.2:p.Tyr85=
ENST00000393568.8:c.196-257T>C	ENSP00000377198.4:n.196-257T>C
ENST00000393569.6:c.177T>C	ENSP00000377199.2:p.Tyr59=
ENST00000474294.6:n.245T>C
ENST00000544807.6:c.87T>C	ENSP00000437513.2:p.Tyr29=
ENST00000554372.5:c.255T>C	ENSP00000451884.1:p.Tyr85=
ENST00000554916.5:n.134T>C
ENST00000555956.1:n.60T>C
ENST00000556879.5:c.315T>C	ENSP00000452208.1:n.315T>C
ENST00000557316.5:c.255T>C	ENSP00000452314.1:p.Tyr85=
ENST00000622264.4:c.245T>C
NM_000153.3:c.255T>C	NP_000144.2:p.Tyr85=
NM_001201401.1:c.196-257T>C	NP_001188330.1:n.196-257T>C
NM_001201402.1:c.177T>C	NP_001188331.1:p.Tyr59=
XM_011536618.1:c.87T>C	XP_011534920.1:p.Tyr29=
XM_011536618.2:c.87T>C	XP_011534920.1:p.Tyr29=
NM_000153.4:c.255T>C MANE Select	NP_000144.2:p.Tyr85=
NM_001201401.2:c.196-257T>C	NP_001188330.1:n.196-257T>C
NM_001201402.2:c.177T>C	NP_001188331.1:p.Tyr59=