Canonical Allele Identifier: CA2904461
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs375406977
gnomAD v2: 4-42965190-C-T
gnomAD v3: 4-42963173-C-T
gnomAD v4: 4-42963173-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963173C>T , CM000666.2:g.42963173C>T GRCh38
NC_000004.11:g.42965190C>T , CM000666.1:g.42965190C>T GRCh37
NC_000004.10:g.42659947C>T NCBI36
NG_027718.1:g.74908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.627+39C>T MANE Select ENSP00000382670.2:n.627+39C>T
ENST00000399770.2:c.627+39C>T ENSP00000382670.2:n.627+39C>T
NM_001080476.2:c.627+39C>T NP_001073945.1:n.627+39C>T
XM_011513691.1:c.264+39C>T XP_011511993.1:n.264+39C>T
NM_001080476.3:c.627+39C>T MANE Select NP_001073945.1:n.627+39C>T