Canonical Allele Identifier: CA339045920

Gene: GRHL3

Linked Data

• ClinVar Variation Id: 465251
• ClinVar RCV Id: RCV000548428
• dbSNP Id: rs1553172687
• MyVariant Identifiers: chr1:g.24664540G>A (hg19) ; chr1:g.24338050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.24338050G>A , CM000663.2:g.24338050G>A	GRCh38
NC_000001.10:g.24664540G>A , CM000663.1:g.24664540G>A	GRCh37
NC_000001.9:g.24537127G>A	NCBI36
NG_009308.1:g.23660G>A
NG_009308.2:g.23660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461318.2:c.899G>A	ENSP00000508789.1:p.Trp300Ter
ENST00000524724.6:c.761G>A	ENSP00000431290.2:p.Trp254Ter
ENST00000528064.6:c.620G>A	ENSP00000435130.2:p.Trp207Ter
ENST00000689444.1:c.761G>A	ENSP00000509040.1:p.Trp254Ter
ENST00000690803.1:c.620G>A	ENSP00000510783.1:p.Trp207Ter
ENST00000692334.1:c.620G>A	ENSP00000509790.1:p.Trp207Ter
ENST00000361548.9:c.899G>A MANE Select	ENSP00000354943.5:p.Trp300Ter
ENST00000236255.4:c.914G>A	ENSP00000236255.4:p.Trp305Ter
ENST00000350501.9:c.899G>A	ENSP00000288955.5:p.Trp300Ter
ENST00000356046.6:c.761G>A	ENSP00000348333.2:p.Trp254Ter
ENST00000361548.8:c.899G>A	ENSP00000354943.4:p.Trp300Ter
ENST00000528064.5:c.*568G>A	ENSP00000435130.1:n.*568G>A
ENST00000528181.1:n.351G>A
NM_001195010.1:c.761G>A	NP_001181939.1:p.Trp254Ter
NM_021180.3:c.914G>A	NP_067003.2:p.Trp305Ter
NM_198173.2:c.899G>A	NP_937816.1:p.Trp300Ter
NM_198174.2:c.899G>A	NP_937817.3:p.Trp300Ter
XM_011541869.1:c.761G>A	XP_011540171.1:p.Trp254Ter
XM_011541870.1:c.620G>A	XP_011540172.1:p.Trp207Ter
XM_011541870.2:c.620G>A	XP_011540172.1:p.Trp207Ter
NM_001195010.2:c.761G>A	NP_001181939.1:p.Trp254Ter
NM_198173.3:c.899G>A MANE Select	NP_937816.1:p.Trp300Ter
NM_198174.3:c.899G>A	NP_937817.3:p.Trp300Ter
NM_021180.4:c.914G>A	NP_067003.2:p.Trp305Ter