Canonical Allele Identifier: CA439191487
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs1261740574
gnomAD v3: 4-42962918-C-T
gnomAD v4: 4-42962918-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42962918C>T , CM000666.2:g.42962918C>T GRCh38
NC_000004.11:g.42964935C>T , CM000666.1:g.42964935C>T GRCh37
NC_000004.10:g.42659692C>T NCBI36
NG_027718.1:g.74653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.411C>T MANE Select ENSP00000382670.2:p.Asp137=
ENST00000399770.2:c.411C>T ENSP00000382670.2:p.Asp137=
NM_001080476.2:c.411C>T NP_001073945.1:p.Asp137=
XM_011513691.1:c.48C>T XP_011511993.1:p.Asp16=
NM_001080476.3:c.411C>T MANE Select NP_001073945.1:p.Asp137=