Canonical Allele Identifier: CA402807165
Gene: GALR1 HGNC NCBI

Linked Data

gnomAD v4: 18-77268588-G-A
MyVariant Identifiers: chr18:g.74980544G>A (hg19) chr18:g.77268588G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268588G>A , CM000680.2:g.77268588G>A GRCh38
NC_000018.9:g.74980544G>A , CM000680.1:g.74980544G>A GRCh37
NC_000018.8:g.73109532G>A NCBI36
NG_009223.1:g.23537G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.736G>A MANE Select ENSP00000299727.3:p.Ala246Thr
ENST00000299727.4:c.736G>A ENSP00000299727.3:p.Ala246Thr
NM_001480.3:c.736G>A NP_001471.2:p.Ala246Thr
NM_001480.4:c.736G>A MANE Select NP_001471.2:p.Ala246Thr
Search 100 bp 5'
Search 100 bp 3'