Canonical Allele Identifier: CA402807169
Gene: GALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.74980544G>T (hg19) chr18:g.77268588G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.736G>T MANE Select ENSP00000299727.3:p.Ala246Ser
ENST00000299727.4:c.736G>T ENSP00000299727.3:p.Ala246Ser
NM_001480.3:c.736G>T NP_001471.2:p.Ala246Ser
NM_001480.4:c.736G>T MANE Select NP_001471.2:p.Ala246Ser
Search 100 bp 5'
Search 100 bp 3'