Canonical Allele Identifier: CA462453763
Community Standard Title: NM_024915.4(GRHL2):c.547C>A (p.Arg183=)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558681C>A , CM000670.2:g.101558681C>A GRCh38
NC_000008.10:g.102570909C>A , CM000670.1:g.102570909C>A GRCh37
NC_000008.9:g.102640085C>A NCBI36
NG_011971.1:g.71242C>A
NG_011971.2:g.71242C>A

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.547C>A MANE Select NP_079191.2:p.Arg183=
ENST00000646743.1:c.547C>A MANE Select ENSP00000495564.1:p.Arg183=
NM_001330593.1:c.499C>A NP_001317522.1:p.Arg167=
NM_001330593.2:c.499C>A NP_001317522.1:p.Arg167=
NM_024915.3:c.547C>A NP_079191.2:p.Arg183=
ENST00000251808.7:c.547C>A ENSP00000251808.3:p.Arg183=
ENST00000395927.1:c.499C>A ENSP00000379260.1:p.Arg167=
XM_011517305.1:c.499C>A XP_011515607.1:p.Arg167=
XM_011517306.1:c.499C>A XP_011515608.1:p.Arg167=
XM_011517306.3:c.499C>A XP_011515608.1:p.Arg167=
XM_011517307.1:c.547C>A XP_011515609.1:p.Arg183=
XM_011517307.3:c.547C>A XP_011515609.1:p.Arg183=