Canonical Allele Identifier: CA487366315

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442830T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976486T>A , CM000676.2:g.87976486T>A	GRCh38
NC_000014.8:g.88442830T>A , CM000676.1:g.88442830T>A	GRCh37
NC_000014.7:g.87512583T>A	NCBI36
NG_011853.2:g.22078A>T
NG_011853.3:g.22078A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.624A>T MANE Select	ENSP00000261304.2:p.Ile208=
ENST00000261304.6:c.624A>T	ENSP00000261304.2:p.Ile208=
ENST00000393568.8:c.555A>T	ENSP00000377198.4:p.Ile185=
ENST00000393569.6:c.546A>T	ENSP00000377199.2:p.Ile182=
ENST00000474294.6:n.614A>T
ENST00000477716.3:n.379A>T
ENST00000544807.6:c.456A>T	ENSP00000437513.2:p.Ile152=
ENST00000554916.5:n.503A>T
ENST00000555000.5:c.-10A>T	ENSP00000450472.1:n.-10A>T
ENST00000557316.5:c.*22A>T	ENSP00000452314.1:n.*22A>T
ENST00000622264.4:c.614A>T
NM_000153.3:c.624A>T	NP_000144.2:p.Ile208=
NM_001201401.1:c.555A>T	NP_001188330.1:p.Ile185=
NM_001201402.1:c.546A>T	NP_001188331.1:p.Ile182=
XM_011536618.1:c.456A>T	XP_011534920.1:p.Ile152=
XM_011536618.2:c.456A>T	XP_011534920.1:p.Ile152=
NM_000153.4:c.624A>T MANE Select	NP_000144.2:p.Ile208=
NM_001201401.2:c.555A>T	NP_001188330.1:p.Ile185=
NM_001201402.2:c.546A>T	NP_001188331.1:p.Ile182=