Canonical Allele Identifier: CA709636412

Gene: GALC

Linked Data

• dbSNP Id: rs1156669877
• gnomAD v3: 14-87982091-G-A
• gnomAD v4: 14-87982091-G-A
• MyVariant Identifiers: chr14:g.88448435G>A (hg19) ; chr14:g.87982091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982091G>A , CM000676.2:g.87982091G>A	GRCh38
NC_000014.8:g.88448435G>A , CM000676.1:g.88448435G>A	GRCh37
NC_000014.7:g.87518188G>A	NCBI36
NG_011853.2:g.16473C>T
NG_011853.3:g.16473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+114C>T MANE Select	ENSP00000261304.2:n.621+114C>T
ENST00000261304.6:c.621+114C>T	ENSP00000261304.2:n.621+114C>T
ENST00000393568.8:c.552+114C>T	ENSP00000377198.4:n.552+114C>T
ENST00000393569.6:c.543+114C>T	ENSP00000377199.2:n.543+114C>T
ENST00000474294.6:n.611+114C>T
ENST00000544807.6:c.453+114C>T	ENSP00000437513.2:n.453+114C>T
ENST00000554916.5:n.500+114C>T
ENST00000556261.5:n.322+114C>T
ENST00000557316.5:c.621+114C>T	ENSP00000452314.1:n.621+114C>T
ENST00000622264.4:c.611+114C>T
NM_000153.3:c.621+114C>T	NP_000144.2:n.621+114C>T
NM_001201401.1:c.552+114C>T	NP_001188330.1:n.552+114C>T
NM_001201402.1:c.543+114C>T	NP_001188331.1:n.543+114C>T
XM_011536618.1:c.453+114C>T	XP_011534920.1:n.453+114C>T
XM_011536618.2:c.453+114C>T	XP_011534920.1:n.453+114C>T
NM_000153.4:c.621+114C>T MANE Select	NP_000144.2:n.621+114C>T
NM_001201401.2:c.552+114C>T	NP_001188330.1:n.552+114C>T
NM_001201402.2:c.543+114C>T	NP_001188331.1:n.543+114C>T