Canonical Allele Identifier: CA390745077

Gene: GALC

Linked Data

• gnomAD v4: 14-87934739-G-A
• MyVariant Identifiers: chr14:g.88401083G>A (hg19) ; chr14:g.87934739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934739G>A , CM000676.2:g.87934739G>A	GRCh38
NC_000014.8:g.88401083G>A , CM000676.1:g.88401083G>A	GRCh37
NC_000014.7:g.87470836G>A	NCBI36
NG_011853.2:g.63825C>T
NG_011853.3:g.63825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2051C>T MANE Select	ENSP00000261304.2:p.Thr684Ile
ENST00000261304.6:c.2051C>T	ENSP00000261304.2:p.Thr684Ile
ENST00000393568.8:c.1982C>T	ENSP00000377198.4:p.Thr661Ile
ENST00000393569.6:c.1973C>T	ENSP00000377199.2:p.Thr658Ile
ENST00000544807.6:c.1744-740C>T	ENSP00000437513.2:n.1744-740C>T
ENST00000555000.5:c.1279-740C>T	ENSP00000450472.1:n.1279-740C>T
NM_000153.3:c.2051C>T	NP_000144.2:p.Thr684Ile
NM_001201401.1:c.1982C>T	NP_001188330.1:p.Thr661Ile
NM_001201402.1:c.1973C>T	NP_001188331.1:p.Thr658Ile
XM_011536618.1:c.1883C>T	XP_011534920.1:p.Thr628Ile
XM_011536618.2:c.1883C>T	XP_011534920.1:p.Thr628Ile
NM_000153.4:c.2051C>T MANE Select	NP_000144.2:p.Thr684Ile
NM_001201401.2:c.1982C>T	NP_001188330.1:p.Thr661Ile
NM_001201402.2:c.1973C>T	NP_001188331.1:p.Thr658Ile