Canonical Allele Identifier: CA689997
Community Standard Title: NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly)
Gene: GRHL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24337749C>G , CM000663.2:g.24337749C>G GRCh38
NC_000001.10:g.24664239C>G , CM000663.1:g.24664239C>G GRCh37
NC_000001.9:g.24536826C>G NCBI36
NG_009308.1:g.23359C>G
NG_009308.2:g.23359C>G

Transcript Alleles

HGVS Amino-acid Change
NM_198173.3:c.800C>G MANE Select NP_937816.1:p.Ala267Gly
ENST00000361548.9:c.800C>G MANE Select ENSP00000354943.5:p.Ala267Gly
NM_001195010.1:c.662C>G NP_001181939.1:p.Ala221Gly
NM_001195010.2:c.662C>G NP_001181939.1:p.Ala221Gly
NM_021180.3:c.815C>G NP_067003.2:p.Ala272Gly
NM_021180.4:c.815C>G NP_067003.2:p.Ala272Gly
NM_198173.2:c.800C>G NP_937816.1:p.Ala267Gly
NM_198174.2:c.800C>G NP_937817.3:p.Ala267Gly
NM_198174.3:c.800C>G NP_937817.3:p.Ala267Gly
ENST00000236255.4:c.815C>G ENSP00000236255.4:p.Ala272Gly
ENST00000350501.9:c.800C>G ENSP00000288955.5:p.Ala267Gly
ENST00000356046.6:c.662C>G ENSP00000348333.2:p.Ala221Gly
ENST00000361548.8:c.800C>G ENSP00000354943.4:p.Ala267Gly
ENST00000461318.2:c.800C>G ENSP00000508789.1:p.Ala267Gly
ENST00000524724.6:c.662C>G ENSP00000431290.2:p.Ala221Gly
ENST00000528064.5:c.*469C>G ENSP00000435130.1:n.*469C>G
ENST00000528064.6:c.521C>G ENSP00000435130.2:p.Ala174Gly
ENST00000528181.1:n.252C>G
ENST00000689444.1:c.662C>G ENSP00000509040.1:p.Ala221Gly
ENST00000690803.1:c.521C>G ENSP00000510783.1:p.Ala174Gly
ENST00000692334.1:c.521C>G ENSP00000509790.1:p.Ala174Gly
XM_011541869.1:c.662C>G XP_011540171.1:p.Ala221Gly
XM_011541870.1:c.521C>G XP_011540172.1:p.Ala174Gly
XM_011541870.2:c.521C>G XP_011540172.1:p.Ala174Gly