Canonical Allele Identifier: CA2904430
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs745711698
ExAC: 4:42965053 C / A
gnomAD v2: 4-42965053-C-A
gnomAD v4: 4-42963036-C-A
MyVariant Identifiers: chr4:g.42965053C>A (hg19) chr4:g.42963036C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963036C>A , CM000666.2:g.42963036C>A GRCh38
NC_000004.11:g.42965053C>A , CM000666.1:g.42965053C>A GRCh37
NC_000004.10:g.42659810C>A NCBI36
NG_027718.1:g.74771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.529C>A MANE Select ENSP00000382670.2:p.Leu177Met
ENST00000399770.2:c.529C>A ENSP00000382670.2:p.Leu177Met
NM_001080476.2:c.529C>A NP_001073945.1:p.Leu177Met
XM_011513691.1:c.166C>A XP_011511993.1:p.Leu56Met
NM_001080476.3:c.529C>A MANE Select NP_001073945.1:p.Leu177Met
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