Canonical Allele Identifier: CA339048183

Gene: GRHL3

Linked Data

• ClinVar Variation Id: 2572982
• ClinVar RCV Id: RCV003315096
• MyVariant Identifiers: chr1:g.24669262G>T (hg19) ; chr1:g.24342772G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.24342772G>T , CM000663.2:g.24342772G>T	GRCh38
NC_000001.10:g.24669262G>T , CM000663.1:g.24669262G>T	GRCh37
NC_000001.9:g.24541849G>T	NCBI36
NG_009308.1:g.28382G>T
NG_009308.2:g.28382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461318.2:c.1285G>T	ENSP00000508789.1:p.Gly429Cys
ENST00000524724.6:c.1147G>T	ENSP00000431290.2:p.Gly383Cys
ENST00000528064.6:c.1006G>T	ENSP00000435130.2:p.Gly336Cys
ENST00000689444.1:c.1147G>T	ENSP00000509040.1:p.Gly383Cys
ENST00000690803.1:c.1006G>T	ENSP00000510783.1:p.Gly336Cys
ENST00000692334.1:c.1006G>T	ENSP00000509790.1:p.Gly336Cys
ENST00000361548.9:c.1285G>T MANE Select	ENSP00000354943.5:p.Gly429Cys
ENST00000236255.4:c.1300G>T	ENSP00000236255.4:p.Gly434Cys
ENST00000350501.9:c.1285G>T	ENSP00000288955.5:p.Gly429Cys
ENST00000356046.6:c.1147G>T	ENSP00000348333.2:p.Gly383Cys
ENST00000361548.8:c.1285G>T	ENSP00000354943.4:p.Gly429Cys
ENST00000461318.1:n.193G>T
ENST00000528064.5:c.*954G>T	ENSP00000435130.1:n.*954G>T
NM_001195010.1:c.1147G>T	NP_001181939.1:p.Gly383Cys
NM_021180.3:c.1300G>T	NP_067003.2:p.Gly434Cys
NM_198173.2:c.1285G>T	NP_937816.1:p.Gly429Cys
NM_198174.2:c.1285G>T	NP_937817.3:p.Gly429Cys
XM_011541869.1:c.1147G>T	XP_011540171.1:p.Gly383Cys
XM_011541870.1:c.1006G>T	XP_011540172.1:p.Gly336Cys
XM_011541870.2:c.1006G>T	XP_011540172.1:p.Gly336Cys
NM_001195010.2:c.1147G>T	NP_001181939.1:p.Gly383Cys
NM_198173.3:c.1285G>T MANE Select	NP_937816.1:p.Gly429Cys
NM_198174.3:c.1285G>T	NP_937817.3:p.Gly429Cys
NM_021180.4:c.1300G>T	NP_067003.2:p.Gly434Cys