Canonical Allele Identifier: CA9006013
Gene: GALR1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.77268853G>A
GRCh37 chr18:g.74980809G>A
Revel Score:
ENST00000299727 (MANE Select) 0.065
gnomAD v2:
18:74980809 G / A
gnomAD v3:
18:77268853 G / A
gnomAD v4:
chr18-77268853-G-A
Joint Max Group AF 0.99804646 (NFE)
Genomes Max Group AF 0.99264737 (NFE)
Exomes Max Group AF 0.99803838 (NFE)
dbSNP:
5376
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268853G>A , CM000680.2:g.77268853G>A GRCh38
NC_000018.9:g.74980809G>A , CM000680.1:g.74980809G>A GRCh37
NC_000018.8:g.73109797G>A NCBI36
NG_009223.1:g.23802G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.1001G>A MANE Select ENSP00000299727.3:p.Ser334Asn
ENST00000299727.4:c.1001G>A ENSP00000299727.3:p.Ser334Asn
NM_001480.3:c.1001G>A NP_001471.2:p.Ser334Asn
NM_001480.4:c.1001G>A MANE Select NP_001471.2:p.Ser334Asn
Search 100 bp 5'
Search 100 bp 3'