Canonical Allele Identifier: CA371643367

Gene: GRHL2

Linked Data

• MyVariant Identifiers: chr8:g.102555626A>C (hg19) ; chr8:g.101543398A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543398A>C , CM000670.2:g.101543398A>C	GRCh38
NC_000008.10:g.102555626A>C , CM000670.1:g.102555626A>C	GRCh37
NC_000008.9:g.102624802A>C	NCBI36
NG_011971.1:g.55959A>C
NG_011971.2:g.55959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.178A>C MANE Select	ENSP00000495564.1:p.Ser60Arg
ENST00000251808.7:c.178A>C	ENSP00000251808.3:p.Ser60Arg
ENST00000395927.1:c.130A>C	ENSP00000379260.1:p.Ser44Arg
ENST00000472106.2:n.506A>C
NM_024915.3:c.178A>C	NP_079191.2:p.Ser60Arg
XM_011517305.1:c.130A>C	XP_011515607.1:p.Ser44Arg
XM_011517306.1:c.130A>C	XP_011515608.1:p.Ser44Arg
XM_011517307.1:c.178A>C	XP_011515609.1:p.Ser60Arg
NM_001330593.1:c.130A>C	NP_001317522.1:p.Ser44Arg
XM_011517306.3:c.130A>C	XP_011515608.1:p.Ser44Arg
XM_011517307.3:c.178A>C	XP_011515609.1:p.Ser60Arg
NM_001330593.2:c.130A>C	NP_001317522.1:p.Ser44Arg
NM_024915.4:c.178A>C MANE Select	NP_079191.2:p.Ser60Arg