Canonical Allele Identifier: CA9005971
Gene: GALR1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.77268645A>T
GRCh37 chr18:g.74980601A>T
Revel Score:
ENST00000299727 (MANE Select) 0.160
gnomAD v2:
18:74980601 A / T
gnomAD v3:
18:77268645 A / T
gnomAD v4:
chr18-77268645-A-T
Joint Max Group AF 0.11223186 (AMR)
Genomes Max Group AF 0.08608883 (AMR)
Exomes Max Group AF 0.12012888 (AMR)
dbSNP:
77169818
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.77268645A>T , CM000680.2:g.77268645A>T GRCh38
NC_000018.9:g.74980601A>T , CM000680.1:g.74980601A>T GRCh37
NC_000018.8:g.73109589A>T NCBI36
NG_009223.1:g.23594A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299727.5:c.793A>T MANE Select ENSP00000299727.3:p.Ile265Phe
ENST00000299727.4:c.793A>T ENSP00000299727.3:p.Ile265Phe
NM_001480.3:c.793A>T NP_001471.2:p.Ile265Phe
NM_001480.4:c.793A>T MANE Select NP_001471.2:p.Ile265Phe
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