Canonical Allele Identifier: CA371644181
Community Standard Title: NM_024915.4(GRHL2):c.539A>C (p.Glu180Ala)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558673A>C , CM000670.2:g.101558673A>C GRCh38
NC_000008.10:g.102570901A>C , CM000670.1:g.102570901A>C GRCh37
NC_000008.9:g.102640077A>C NCBI36
NG_011971.1:g.71234A>C
NG_011971.2:g.71234A>C

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.539A>C MANE Select NP_079191.2:p.Glu180Ala
ENST00000646743.1:c.539A>C MANE Select ENSP00000495564.1:p.Glu180Ala
NM_001330593.1:c.491A>C NP_001317522.1:p.Glu164Ala
NM_001330593.2:c.491A>C NP_001317522.1:p.Glu164Ala
NM_024915.3:c.539A>C NP_079191.2:p.Glu180Ala
ENST00000251808.7:c.539A>C ENSP00000251808.3:p.Glu180Ala
ENST00000395927.1:c.491A>C ENSP00000379260.1:p.Glu164Ala
XM_011517305.1:c.491A>C XP_011515607.1:p.Glu164Ala
XM_011517306.1:c.491A>C XP_011515608.1:p.Glu164Ala
XM_011517306.3:c.491A>C XP_011515608.1:p.Glu164Ala
XM_011517307.1:c.539A>C XP_011515609.1:p.Glu180Ala
XM_011517307.3:c.539A>C XP_011515609.1:p.Glu180Ala