Canonical Allele Identifier: CA689989
Community Standard Title: NM_198173.3(GRHL3):c.759C>G (p.Leu253=)
Gene: GRHL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.24337708C>G , CM000663.2:g.24337708C>G GRCh38
NC_000001.10:g.24664198C>G , CM000663.1:g.24664198C>G GRCh37
NC_000001.9:g.24536785C>G NCBI36
NG_009308.1:g.23318C>G
NG_009308.2:g.23318C>G

Transcript Alleles

HGVS Amino-acid Change
NM_198173.3:c.759C>G MANE Select NP_937816.1:p.Leu253=
ENST00000361548.9:c.759C>G MANE Select ENSP00000354943.5:p.Leu253=
NM_001195010.1:c.621C>G NP_001181939.1:p.Leu207=
NM_001195010.2:c.621C>G NP_001181939.1:p.Leu207=
NM_021180.3:c.774C>G NP_067003.2:p.Leu258=
NM_021180.4:c.774C>G NP_067003.2:p.Leu258=
NM_198173.2:c.759C>G NP_937816.1:p.Leu253=
NM_198174.2:c.759C>G NP_937817.3:p.Leu253=
NM_198174.3:c.759C>G NP_937817.3:p.Leu253=
ENST00000236255.4:c.774C>G ENSP00000236255.4:p.Leu258=
ENST00000350501.9:c.759C>G ENSP00000288955.5:p.Leu253=
ENST00000356046.6:c.621C>G ENSP00000348333.2:p.Leu207=
ENST00000361548.8:c.759C>G ENSP00000354943.4:p.Leu253=
ENST00000461318.2:c.759C>G ENSP00000508789.1:p.Leu253=
ENST00000524724.6:c.621C>G ENSP00000431290.2:p.Leu207=
ENST00000528064.5:c.*428C>G ENSP00000435130.1:n.*428C>G
ENST00000528064.6:c.480C>G ENSP00000435130.2:p.Leu160=
ENST00000528181.1:n.211C>G
ENST00000689444.1:c.621C>G ENSP00000509040.1:p.Leu207=
ENST00000690803.1:c.480C>G ENSP00000510783.1:p.Leu160=
ENST00000692334.1:c.480C>G ENSP00000509790.1:p.Leu160=
XM_011541869.1:c.621C>G XP_011540171.1:p.Leu207=
XM_011541870.1:c.480C>G XP_011540172.1:p.Leu160=
XM_011541870.2:c.480C>G XP_011540172.1:p.Leu160=