Canonical Allele Identifier: CA487355617

Gene: GALC

Linked Data

• gnomAD v4: 14-87947756-T-C
• MyVariant Identifiers: chr14:g.88414100T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947756T>C , CM000676.2:g.87947756T>C	GRCh38
NC_000014.8:g.88414100T>C , CM000676.1:g.88414100T>C	GRCh37
NC_000014.7:g.87483853T>C	NCBI36
NG_011853.2:g.50808A>G
NG_011853.3:g.50808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1461A>G MANE Select	ENSP00000261304.2:p.Pro487=
ENST00000261304.6:c.1461A>G	ENSP00000261304.2:p.Pro487=
ENST00000393568.8:c.1392A>G	ENSP00000377198.4:p.Pro464=
ENST00000393569.6:c.1383A>G	ENSP00000377199.2:p.Pro461=
ENST00000544807.6:c.1293A>G	ENSP00000437513.2:p.Pro431=
ENST00000555000.5:c.828A>G	ENSP00000450472.1:p.Pro276=
ENST00000555179.1:c.178A>G
ENST00000557316.5:c.*859A>G	ENSP00000452314.1:n.*859A>G
NM_000153.3:c.1461A>G	NP_000144.2:p.Pro487=
NM_001201401.1:c.1392A>G	NP_001188330.1:p.Pro464=
NM_001201402.1:c.1383A>G	NP_001188331.1:p.Pro461=
XM_011536618.1:c.1293A>G	XP_011534920.1:p.Pro431=
XM_011536618.2:c.1293A>G	XP_011534920.1:p.Pro431=
NM_000153.4:c.1461A>G MANE Select	NP_000144.2:p.Pro487=
NM_001201401.2:c.1392A>G	NP_001188330.1:p.Pro464=
NM_001201402.2:c.1383A>G	NP_001188331.1:p.Pro461=