Canonical Allele Identifier: CA371643290

Gene: GRHL2

Linked Data

• gnomAD v4: 8-101543368-G-A
• MyVariant Identifiers: chr8:g.102555596G>A (hg19) ; chr8:g.101543368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543368G>A , CM000670.2:g.101543368G>A	GRCh38
NC_000008.10:g.102555596G>A , CM000670.1:g.102555596G>A	GRCh37
NC_000008.9:g.102624772G>A	NCBI36
NG_011971.1:g.55929G>A
NG_011971.2:g.55929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.148G>A MANE Select	ENSP00000495564.1:p.Ala50Thr
ENST00000251808.7:c.148G>A	ENSP00000251808.3:p.Ala50Thr
ENST00000395927.1:c.100G>A	ENSP00000379260.1:p.Ala34Thr
ENST00000472106.2:n.476G>A
NM_024915.3:c.148G>A	NP_079191.2:p.Ala50Thr
XM_011517305.1:c.100G>A	XP_011515607.1:p.Ala34Thr
XM_011517306.1:c.100G>A	XP_011515608.1:p.Ala34Thr
XM_011517307.1:c.148G>A	XP_011515609.1:p.Ala50Thr
NM_001330593.1:c.100G>A	NP_001317522.1:p.Ala34Thr
XM_011517306.3:c.100G>A	XP_011515608.1:p.Ala34Thr
XM_011517307.3:c.148G>A	XP_011515609.1:p.Ala50Thr
NM_001330593.2:c.100G>A	NP_001317522.1:p.Ala34Thr
NM_024915.4:c.148G>A MANE Select	NP_079191.2:p.Ala50Thr