Canonical Allele Identifier: CA487366235

Gene: GALC

Linked Data

• dbSNP Id: rs778552414
• gnomAD v4: 14-87976387-G-C
• MyVariant Identifiers: chr14:g.88442731G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976387G>C , CM000676.2:g.87976387G>C	GRCh38
NC_000014.8:g.88442731G>C , CM000676.1:g.88442731G>C	GRCh37
NC_000014.7:g.87512484G>C	NCBI36
NG_011853.2:g.22177C>G
NG_011853.3:g.22177C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.723C>G MANE Select	ENSP00000261304.2:p.Ala241=
ENST00000261304.6:c.723C>G	ENSP00000261304.2:p.Ala241=
ENST00000393568.8:c.654C>G	ENSP00000377198.4:p.Ala218=
ENST00000393569.6:c.645C>G	ENSP00000377199.2:p.Ala215=
ENST00000474294.6:n.713C>G
ENST00000477716.3:n.478C>G
ENST00000544807.6:c.555C>G	ENSP00000437513.2:p.Ala185=
ENST00000554916.5:n.602C>G
ENST00000555000.5:c.90C>G	ENSP00000450472.1:p.Ala30=
ENST00000557316.5:c.*121C>G	ENSP00000452314.1:n.*121C>G
ENST00000622264.4:c.713C>G
NM_000153.3:c.723C>G	NP_000144.2:p.Ala241=
NM_001201401.1:c.654C>G	NP_001188330.1:p.Ala218=
NM_001201402.1:c.645C>G	NP_001188331.1:p.Ala215=
XM_011536618.1:c.555C>G	XP_011534920.1:p.Ala185=
XM_011536618.2:c.555C>G	XP_011534920.1:p.Ala185=
NM_000153.4:c.723C>G MANE Select	NP_000144.2:p.Ala241=
NM_001201401.2:c.654C>G	NP_001188330.1:p.Ala218=
NM_001201402.2:c.645C>G	NP_001188331.1:p.Ala215=