Canonical Allele Identifier: CA487355492

Gene: GALC

Linked Data

• gnomAD v4: 14-87945579-T-A
• MyVariant Identifiers: chr14:g.88411923T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945579T>A , CM000676.2:g.87945579T>A	GRCh38
NC_000014.8:g.88411923T>A , CM000676.1:g.88411923T>A	GRCh37
NC_000014.7:g.87481676T>A	NCBI36
NG_011853.2:g.52985A>T
NG_011853.3:g.52985A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1644A>T MANE Select	ENSP00000261304.2:p.Thr548=
ENST00000261304.6:c.1644A>T	ENSP00000261304.2:p.Thr548=
ENST00000393568.8:c.1575A>T	ENSP00000377198.4:p.Thr525=
ENST00000393569.6:c.1566A>T	ENSP00000377199.2:p.Thr522=
ENST00000544807.6:c.1476A>T	ENSP00000437513.2:p.Thr492=
ENST00000555000.5:c.1011A>T	ENSP00000450472.1:p.Thr337=
ENST00000555179.1:c.206+2149A>T
ENST00000557316.5:c.*1042A>T	ENSP00000452314.1:n.*1042A>T
NM_000153.3:c.1644A>T	NP_000144.2:p.Thr548=
NM_001201401.1:c.1575A>T	NP_001188330.1:p.Thr525=
NM_001201402.1:c.1566A>T	NP_001188331.1:p.Thr522=
XM_011536618.1:c.1476A>T	XP_011534920.1:p.Thr492=
XM_011536618.2:c.1476A>T	XP_011534920.1:p.Thr492=
NM_000153.4:c.1644A>T MANE Select	NP_000144.2:p.Thr548=
NM_001201401.2:c.1575A>T	NP_001188330.1:p.Thr525=
NM_001201402.2:c.1566A>T	NP_001188331.1:p.Thr522=