Canonical Allele Identifier: CA504863545
Gene: GALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.74980546A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268590A>G , CM000680.2:g.77268590A>G GRCh38
NC_000018.9:g.74980546A>G , CM000680.1:g.74980546A>G GRCh37
NC_000018.8:g.73109534A>G NCBI36
NG_009223.1:g.23539A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299727.5:c.738A>G MANE Select ENSP00000299727.3:p.Ala246=
ENST00000299727.4:c.738A>G ENSP00000299727.3:p.Ala246=
NM_001480.3:c.738A>G NP_001471.2:p.Ala246=
NM_001480.4:c.738A>G MANE Select NP_001471.2:p.Ala246=