Canonical Allele Identifier: CA371644194
Community Standard Title: NM_024915.4(GRHL2):c.544C>G (p.Gln182Glu)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558678C>G , CM000670.2:g.101558678C>G GRCh38
NC_000008.10:g.102570906C>G , CM000670.1:g.102570906C>G GRCh37
NC_000008.9:g.102640082C>G NCBI36
NG_011971.1:g.71239C>G
NG_011971.2:g.71239C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.544C>G MANE Select NP_079191.2:p.Gln182Glu
ENST00000646743.1:c.544C>G MANE Select ENSP00000495564.1:p.Gln182Glu
NM_001330593.1:c.496C>G NP_001317522.1:p.Gln166Glu
NM_001330593.2:c.496C>G NP_001317522.1:p.Gln166Glu
NM_024915.3:c.544C>G NP_079191.2:p.Gln182Glu
ENST00000251808.7:c.544C>G ENSP00000251808.3:p.Gln182Glu
ENST00000395927.1:c.496C>G ENSP00000379260.1:p.Gln166Glu
XM_011517305.1:c.496C>G XP_011515607.1:p.Gln166Glu
XM_011517306.1:c.496C>G XP_011515608.1:p.Gln166Glu
XM_011517306.3:c.496C>G XP_011515608.1:p.Gln166Glu
XM_011517307.1:c.544C>G XP_011515609.1:p.Gln182Glu
XM_011517307.3:c.544C>G XP_011515609.1:p.Gln182Glu