Canonical Allele Identifier: CA371644200
Community Standard Title: NM_024915.4(GRHL2):c.546A>T (p.Gln182His)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558680A>T , CM000670.2:g.101558680A>T GRCh38
NC_000008.10:g.102570908A>T , CM000670.1:g.102570908A>T GRCh37
NC_000008.9:g.102640084A>T NCBI36
NG_011971.1:g.71241A>T
NG_011971.2:g.71241A>T

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.546A>T MANE Select NP_079191.2:p.Gln182His
ENST00000646743.1:c.546A>T MANE Select ENSP00000495564.1:p.Gln182His
NM_001330593.1:c.498A>T NP_001317522.1:p.Gln166His
NM_001330593.2:c.498A>T NP_001317522.1:p.Gln166His
NM_024915.3:c.546A>T NP_079191.2:p.Gln182His
ENST00000251808.7:c.546A>T ENSP00000251808.3:p.Gln182His
ENST00000395927.1:c.498A>T ENSP00000379260.1:p.Gln166His
XM_011517305.1:c.498A>T XP_011515607.1:p.Gln166His
XM_011517306.1:c.498A>T XP_011515608.1:p.Gln166His
XM_011517306.3:c.498A>T XP_011515608.1:p.Gln166His
XM_011517307.1:c.546A>T XP_011515609.1:p.Gln182His
XM_011517307.3:c.546A>T XP_011515609.1:p.Gln182His