Canonical Allele Identifier: CA462127914

Gene: GRHL2

Linked Data

• gnomAD v4: 8-101644143-T-A
• MyVariant Identifiers: chr8:g.102656371T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644143T>A , CM000670.2:g.101644143T>A	GRCh38
NC_000008.10:g.102656371T>A , CM000670.1:g.102656371T>A	GRCh37
NC_000008.9:g.102725547T>A	NCBI36
NG_011971.1:g.156704T>A
NG_011971.2:g.156704T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1530T>A MANE Select	ENSP00000495564.1:p.Leu510=
ENST00000251808.7:c.1530T>A	ENSP00000251808.3:p.Leu510=
ENST00000395927.1:c.1482T>A	ENSP00000379260.1:p.Leu494=
ENST00000474338.1:n.172T>A
ENST00000517674.5:n.185T>A
NM_024915.3:c.1530T>A	NP_079191.2:p.Leu510=
XM_011517305.1:c.1482T>A	XP_011515607.1:p.Leu494=
XM_011517306.1:c.1482T>A	XP_011515608.1:p.Leu494=
XM_011517307.1:c.1530T>A	XP_011515609.1:p.Leu510=
NM_001330593.1:c.1482T>A	NP_001317522.1:p.Leu494=
XM_011517306.3:c.1482T>A	XP_011515608.1:p.Leu494=
XM_011517307.3:c.1530T>A	XP_011515609.1:p.Leu510=
NM_001330593.2:c.1482T>A	NP_001317522.1:p.Leu494=
NM_024915.4:c.1530T>A MANE Select	NP_079191.2:p.Leu510=