Canonical Allele Identifier: CA371644198
Community Standard Title: NM_024915.4(GRHL2):c.545A>T (p.Gln182Leu)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558679A>T , CM000670.2:g.101558679A>T GRCh38
NC_000008.10:g.102570907A>T , CM000670.1:g.102570907A>T GRCh37
NC_000008.9:g.102640083A>T NCBI36
NG_011971.1:g.71240A>T
NG_011971.2:g.71240A>T

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.545A>T MANE Select NP_079191.2:p.Gln182Leu
ENST00000646743.1:c.545A>T MANE Select ENSP00000495564.1:p.Gln182Leu
NM_001330593.1:c.497A>T NP_001317522.1:p.Gln166Leu
NM_001330593.2:c.497A>T NP_001317522.1:p.Gln166Leu
NM_024915.3:c.545A>T NP_079191.2:p.Gln182Leu
ENST00000251808.7:c.545A>T ENSP00000251808.3:p.Gln182Leu
ENST00000395927.1:c.497A>T ENSP00000379260.1:p.Gln166Leu
XM_011517305.1:c.497A>T XP_011515607.1:p.Gln166Leu
XM_011517306.1:c.497A>T XP_011515608.1:p.Gln166Leu
XM_011517306.3:c.497A>T XP_011515608.1:p.Gln166Leu
XM_011517307.1:c.545A>T XP_011515609.1:p.Gln182Leu
XM_011517307.3:c.545A>T XP_011515609.1:p.Gln182Leu