Canonical Allele Identifier: CA371643098

Gene: GRHL2

Linked Data

• gnomAD v4: 8-101543280-C-A
• MyVariant Identifiers: chr8:g.102555508C>A (hg19) ; chr8:g.101543280C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543280C>A , CM000670.2:g.101543280C>A	GRCh38
NC_000008.10:g.102555508C>A , CM000670.1:g.102555508C>A	GRCh37
NC_000008.9:g.102624684C>A	NCBI36
NG_011971.1:g.55841C>A
NG_011971.2:g.55841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.60C>A MANE Select	ENSP00000495564.1:p.Asp20Glu
ENST00000251808.7:c.60C>A	ENSP00000251808.3:p.Asp20Glu
ENST00000395927.1:c.12C>A	ENSP00000379260.1:p.Asp4Glu
ENST00000472106.2:n.388C>A
NM_024915.3:c.60C>A	NP_079191.2:p.Asp20Glu
XM_011517305.1:c.12C>A	XP_011515607.1:p.Asp4Glu
XM_011517306.1:c.12C>A	XP_011515608.1:p.Asp4Glu
XM_011517307.1:c.60C>A	XP_011515609.1:p.Asp20Glu
NM_001330593.1:c.12C>A	NP_001317522.1:p.Asp4Glu
XM_011517306.3:c.12C>A	XP_011515608.1:p.Asp4Glu
XM_011517307.3:c.60C>A	XP_011515609.1:p.Asp20Glu
NM_001330593.2:c.12C>A	NP_001317522.1:p.Asp4Glu
NM_024915.4:c.60C>A MANE Select	NP_079191.2:p.Asp20Glu