Canonical Allele Identifier: CA504863540
Gene: GALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.74980543T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268587T>C , CM000680.2:g.77268587T>C GRCh38
NC_000018.9:g.74980543T>C , CM000680.1:g.74980543T>C GRCh37
NC_000018.8:g.73109531T>C NCBI36
NG_009223.1:g.23536T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.735T>C MANE Select ENSP00000299727.3:p.Thr245=
ENST00000299727.4:c.735T>C ENSP00000299727.3:p.Thr245=
NM_001480.3:c.735T>C NP_001471.2:p.Thr245=
NM_001480.4:c.735T>C MANE Select NP_001471.2:p.Thr245=
Search 100 bp 5'
Search 100 bp 3'