Canonical Allele Identifier: CA487355614

Gene: GALC

Linked Data

• gnomAD v4: 14-87947750-G-T
• MyVariant Identifiers: chr14:g.88414094G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947750G>T , CM000676.2:g.87947750G>T	GRCh38
NC_000014.8:g.88414094G>T , CM000676.1:g.88414094G>T	GRCh37
NC_000014.7:g.87483847G>T	NCBI36
NG_011853.2:g.50814C>A
NG_011853.3:g.50814C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1467C>A MANE Select	ENSP00000261304.2:p.Thr489=
ENST00000261304.6:c.1467C>A	ENSP00000261304.2:p.Thr489=
ENST00000393568.8:c.1398C>A	ENSP00000377198.4:p.Thr466=
ENST00000393569.6:c.1389C>A	ENSP00000377199.2:p.Thr463=
ENST00000544807.6:c.1299C>A	ENSP00000437513.2:p.Thr433=
ENST00000555000.5:c.834C>A	ENSP00000450472.1:p.Thr278=
ENST00000555179.1:c.184C>A
ENST00000557316.5:c.*865C>A	ENSP00000452314.1:n.*865C>A
NM_000153.3:c.1467C>A	NP_000144.2:p.Thr489=
NM_001201401.1:c.1398C>A	NP_001188330.1:p.Thr466=
NM_001201402.1:c.1389C>A	NP_001188331.1:p.Thr463=
XM_011536618.1:c.1299C>A	XP_011534920.1:p.Thr433=
XM_011536618.2:c.1299C>A	XP_011534920.1:p.Thr433=
NM_000153.4:c.1467C>A MANE Select	NP_000144.2:p.Thr489=
NM_001201401.2:c.1398C>A	NP_001188330.1:p.Thr466=
NM_001201402.2:c.1389C>A	NP_001188331.1:p.Thr463=