Canonical Allele Identifier: CA264673312

Gene: GALC

Linked Data

• dbSNP Id: rs200564085
• gnomAD v2: 14-88399551-G-A
• gnomAD v3: 14-87933207-G-A
• gnomAD v4: 14-87933207-G-A
• MyVariant Identifiers: chr14:g.88399551G>A (hg19) ; chr14:g.87933207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933207G>A , CM000676.2:g.87933207G>A	GRCh38
NC_000014.8:g.88399551G>A , CM000676.1:g.88399551G>A	GRCh37
NC_000014.7:g.87469304G>A	NCBI36
NG_011853.2:g.65357C>T
NG_011853.3:g.65357C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1525C>T MANE Select	ENSP00000261304.2:n.*1525C>T
ENST00000261304.6:c.*1525C>T	ENSP00000261304.2:n.*1525C>T
ENST00000555000.5:c.*74+692C>T	ENSP00000450472.1:n.*74+692C>T
NM_000153.3:c.*1525C>T	NP_000144.2:n.*1525C>T
NM_001201401.1:c.*1525C>T	NP_001188330.1:n.*1525C>T
NM_001201402.1:c.*1525C>T	NP_001188331.1:n.*1525C>T
XM_011536618.1:c.*1525C>T	XP_011534920.1:n.*1525C>T
XM_011536618.2:c.*1525C>T	XP_011534920.1:n.*1525C>T
NM_000153.4:c.*1525C>T MANE Select	NP_000144.2:n.*1525C>T
NM_001201401.2:c.*1525C>T	NP_001188330.1:n.*1525C>T
NM_001201402.2:c.*1525C>T	NP_001188331.1:n.*1525C>T