Canonical Allele Identifier: CA339048842
Gene: GRHL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24343026G>C , CM000663.2:g.24343026G>C GRCh38
NC_000001.10:g.24669516G>C , CM000663.1:g.24669516G>C GRCh37
NC_000001.9:g.24542103G>C NCBI36
NG_009308.1:g.28636G>C
NG_009308.2:g.28636G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461318.2:c.1420G>C ENSP00000508789.1:p.Val474Leu
ENST00000524724.6:c.1281+1G>C ENSP00000431290.2:n.1281+1G>C
ENST00000528064.6:c.1140+1G>C ENSP00000435130.2:n.1140+1G>C
ENST00000689444.1:c.1281+1G>C ENSP00000509040.1:n.1281+1G>C
ENST00000690803.1:c.1140+1G>C ENSP00000510783.1:n.1140+1G>C
ENST00000692334.1:c.1140+1G>C ENSP00000509790.1:n.1140+1G>C
ENST00000361548.9:c.1419+1G>C MANE Select ENSP00000354943.5:n.1419+1G>C
ENST00000236255.4:c.1434+1G>C ENSP00000236255.4:n.1434+1G>C
ENST00000350501.9:c.1419+1G>C ENSP00000288955.5:n.1419+1G>C
ENST00000356046.6:c.1281+1G>C ENSP00000348333.2:n.1281+1G>C
ENST00000361548.8:c.1419+1G>C ENSP00000354943.4:n.1419+1G>C
ENST00000461318.1:n.328G>C
ENST00000528064.5:c.*1088+1G>C ENSP00000435130.1:n.*1088+1G>C
NM_001195010.1:c.1281+1G>C NP_001181939.1:n.1281+1G>C
NM_021180.3:c.1434+1G>C NP_067003.2:n.1434+1G>C
NM_198173.2:c.1419+1G>C NP_937816.1:n.1419+1G>C
NM_198174.2:c.1419+1G>C NP_937817.3:n.1419+1G>C
XM_011541869.1:c.1281+1G>C XP_011540171.1:n.1281+1G>C
XM_011541870.1:c.1140+1G>C XP_011540172.1:n.1140+1G>C
XM_011541870.2:c.1140+1G>C XP_011540172.1:n.1140+1G>C
NM_001195010.2:c.1281+1G>C NP_001181939.1:n.1281+1G>C
NM_198173.3:c.1419+1G>C MANE Select NP_937816.1:n.1419+1G>C
NM_198174.3:c.1419+1G>C NP_937817.3:n.1419+1G>C
NM_021180.4:c.1434+1G>C NP_067003.2:n.1434+1G>C