Canonical Allele Identifier: CA390752692

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452914G>T (hg19) ; chr14:g.87986570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986570G>T , CM000676.2:g.87986570G>T	GRCh38
NC_000014.8:g.88452914G>T , CM000676.1:g.88452914G>T	GRCh37
NC_000014.7:g.87522667G>T	NCBI36
NG_011853.2:g.11994C>A
NG_011853.3:g.11994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.361C>A MANE Select	ENSP00000261304.2:p.Leu121Ile
ENST00000261304.6:c.361C>A	ENSP00000261304.2:p.Leu121Ile
ENST00000393568.8:c.292C>A	ENSP00000377198.4:p.Leu98Ile
ENST00000393569.6:c.283C>A	ENSP00000377199.2:p.Leu95Ile
ENST00000474294.6:n.351C>A
ENST00000544807.6:c.193C>A	ENSP00000437513.2:p.Leu65Ile
ENST00000554372.5:c.*110C>A	ENSP00000451884.1:n.*110C>A
ENST00000554916.5:n.240C>A
ENST00000556261.5:n.62C>A
ENST00000556879.5:c.421C>A	ENSP00000452208.1:n.421C>A
ENST00000557316.5:c.361C>A	ENSP00000452314.1:p.Leu121Ile
ENST00000622264.4:c.351C>A
NM_000153.3:c.361C>A	NP_000144.2:p.Leu121Ile
NM_001201401.1:c.292C>A	NP_001188330.1:p.Leu98Ile
NM_001201402.1:c.283C>A	NP_001188331.1:p.Leu95Ile
XM_011536618.1:c.193C>A	XP_011534920.1:p.Leu65Ile
XM_011536618.2:c.193C>A	XP_011534920.1:p.Leu65Ile
NM_000153.4:c.361C>A MANE Select	NP_000144.2:p.Leu121Ile
NM_001201401.2:c.292C>A	NP_001188330.1:p.Leu98Ile
NM_001201402.2:c.283C>A	NP_001188331.1:p.Leu95Ile