Canonical Allele Identifier: CA1806383444
Community Standard Title: NM_024915.4(GRHL2):c.548G= (p.Arg183=)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558682G= , CM000670.2:g.101558682G= GRCh38
NC_000008.10:g.102570910G= , CM000670.1:g.102570910G= GRCh37
NC_000008.9:g.102640086G= NCBI36
NG_011971.1:g.71243G=
NG_011971.2:g.71243G=

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.548G= MANE Select NP_079191.2:p.Arg183=
ENST00000646743.1:c.548G= MANE Select ENSP00000495564.1:p.Arg183=
NM_001330593.1:c.500G= NP_001317522.1:p.Arg167=
NM_001330593.2:c.500G= NP_001317522.1:p.Arg167=
NM_024915.3:c.548G= NP_079191.2:p.Arg183=
ENST00000251808.7:c.548G= ENSP00000251808.3:p.Arg183=
ENST00000395927.1:c.500G= ENSP00000379260.1:p.Arg167=
XM_011517305.1:c.500G= XP_011515607.1:p.Arg167=
XM_011517306.1:c.500G= XP_011515608.1:p.Arg167=
XM_011517306.3:c.500G= XP_011515608.1:p.Arg167=
XM_011517307.1:c.548G= XP_011515609.1:p.Arg183=
XM_011517307.3:c.548G= XP_011515609.1:p.Arg183=