Canonical Allele Identifier: CA371644203
Community Standard Title: NM_024915.4(GRHL2):c.548G>T (p.Arg183Leu)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558682G>T , CM000670.2:g.101558682G>T GRCh38
NC_000008.10:g.102570910G>T , CM000670.1:g.102570910G>T GRCh37
NC_000008.9:g.102640086G>T NCBI36
NG_011971.1:g.71243G>T
NG_011971.2:g.71243G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.548G>T MANE Select NP_079191.2:p.Arg183Leu
ENST00000646743.1:c.548G>T MANE Select ENSP00000495564.1:p.Arg183Leu
NM_001330593.1:c.500G>T NP_001317522.1:p.Arg167Leu
NM_001330593.2:c.500G>T NP_001317522.1:p.Arg167Leu
NM_024915.3:c.548G>T NP_079191.2:p.Arg183Leu
ENST00000251808.7:c.548G>T ENSP00000251808.3:p.Arg183Leu
ENST00000395927.1:c.500G>T ENSP00000379260.1:p.Arg167Leu
XM_011517305.1:c.500G>T XP_011515607.1:p.Arg167Leu
XM_011517306.1:c.500G>T XP_011515608.1:p.Arg167Leu
XM_011517306.3:c.500G>T XP_011515608.1:p.Arg167Leu
XM_011517307.1:c.548G>T XP_011515609.1:p.Arg183Leu
XM_011517307.3:c.548G>T XP_011515609.1:p.Arg183Leu