Canonical Allele Identifier: CA7296814

Gene: GALC

Linked Data

• dbSNP Id: rs564789658
• ExAC: 14:88401035 G / A
• gnomAD v2: 14-88401035-G-A
• gnomAD v3: 14-87934691-G-A
• gnomAD v4: 14-87934691-G-A
• MyVariant Identifiers: chr14:g.88401035G>A (hg19) ; chr14:g.87934691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934691G>A , CM000676.2:g.87934691G>A	GRCh38
NC_000014.8:g.88401035G>A , CM000676.1:g.88401035G>A	GRCh37
NC_000014.7:g.87470788G>A	NCBI36
NG_011853.2:g.63873C>T
NG_011853.3:g.63873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*41C>T MANE Select	ENSP00000261304.2:n.*41C>T
ENST00000261304.6:c.*41C>T	ENSP00000261304.2:n.*41C>T
ENST00000393568.8:c.*41C>T	ENSP00000377198.4:n.*41C>T
ENST00000393569.6:c.*41C>T	ENSP00000377199.2:n.*41C>T
ENST00000544807.6:c.1744-692C>T	ENSP00000437513.2:n.1744-692C>T
ENST00000555000.5:c.1279-692C>T	ENSP00000450472.1:n.1279-692C>T
NM_000153.3:c.*41C>T	NP_000144.2:n.*41C>T
NM_001201401.1:c.*41C>T	NP_001188330.1:n.*41C>T
NM_001201402.1:c.*41C>T	NP_001188331.1:n.*41C>T
XM_011536618.1:c.*41C>T	XP_011534920.1:n.*41C>T
XM_011536618.2:c.*41C>T	XP_011534920.1:n.*41C>T
NM_000153.4:c.*41C>T MANE Select	NP_000144.2:n.*41C>T
NM_001201401.2:c.*41C>T	NP_001188330.1:n.*41C>T
NM_001201402.2:c.*41C>T	NP_001188331.1:n.*41C>T