Canonical Allele Identifier: CA96318806
Gene: GRXCR1 HGNC NCBI
dbSNP:
606231120
gnomAD v2:
4:43022362 C / T
gnomAD v3:
4:43020345 C / T
gnomAD v4:
chr4-43020345-C-T
Joint Max Group AF 0.00000438 (NFE)
Exomes Max Group AF 0.00000389 (NFE)
MyVariant.info:
GRCh38 chr4:g.43020345C>T
GRCh37 chr4:g.43022362C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.43020345C>T , CM000666.2:g.43020345C>T GRCh38
NC_000004.11:g.43022362C>T , CM000666.1:g.43022362C>T GRCh37
NC_000004.10:g.42717119C>T NCBI36
NG_027718.1:g.132080C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.628-9C>T MANE Select ENSP00000382670.2:n.628-9C>T
ENST00000399770.2:c.628-9C>T ENSP00000382670.2:n.628-9C>T
NM_001080476.2:c.628-9C>T NP_001073945.1:n.628-9C>T
XM_011513691.1:c.265-9C>T XP_011511993.1:n.265-9C>T
NM_001080476.3:c.628-9C>T MANE Select NP_001073945.1:n.628-9C>T
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