Canonical Allele Identifier: CA487366336

Gene: GALC

Linked Data

• gnomAD v4: 14-87982208-A-G
• MyVariant Identifiers: chr14:g.88448552A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982208A>G , CM000676.2:g.87982208A>G	GRCh38
NC_000014.8:g.88448552A>G , CM000676.1:g.88448552A>G	GRCh37
NC_000014.7:g.87518305A>G	NCBI36
NG_011853.2:g.16356T>C
NG_011853.3:g.16356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.618T>C MANE Select	ENSP00000261304.2:p.Ile206=
ENST00000261304.6:c.618T>C	ENSP00000261304.2:p.Ile206=
ENST00000393568.8:c.549T>C	ENSP00000377198.4:p.Ile183=
ENST00000393569.6:c.540T>C	ENSP00000377199.2:p.Ile180=
ENST00000474294.6:n.608T>C
ENST00000544807.6:c.450T>C	ENSP00000437513.2:p.Ile150=
ENST00000554372.5:c.*367T>C	ENSP00000451884.1:n.*367T>C
ENST00000554916.5:n.497T>C
ENST00000556261.5:n.319T>C
ENST00000557316.5:c.618T>C	ENSP00000452314.1:p.Ile206=
ENST00000622264.4:c.608T>C
NM_000153.3:c.618T>C	NP_000144.2:p.Ile206=
NM_001201401.1:c.549T>C	NP_001188330.1:p.Ile183=
NM_001201402.1:c.540T>C	NP_001188331.1:p.Ile180=
XM_011536618.1:c.450T>C	XP_011534920.1:p.Ile150=
XM_011536618.2:c.450T>C	XP_011534920.1:p.Ile150=
NM_000153.4:c.618T>C MANE Select	NP_000144.2:p.Ile206=
NM_001201401.2:c.549T>C	NP_001188330.1:p.Ile183=
NM_001201402.2:c.540T>C	NP_001188331.1:p.Ile180=