Canonical Allele Identifier: CA504863539
Gene: GALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.74980543T>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.735T>A MANE Select ENSP00000299727.3:p.Thr245=
ENST00000299727.4:c.735T>A ENSP00000299727.3:p.Thr245=
NM_001480.3:c.735T>A NP_001471.2:p.Thr245=
NM_001480.4:c.735T>A MANE Select NP_001471.2:p.Thr245=