Canonical Allele Identifier: CA4830301
Community Standard Title: NM_024915.4(GRHL2):c.454G>A (p.Val152Met)
Gene: GRHL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101558588G>A , CM000670.2:g.101558588G>A GRCh38
NC_000008.10:g.102570816G>A , CM000670.1:g.102570816G>A GRCh37
NC_000008.9:g.102639992G>A NCBI36
NG_011971.1:g.71149G>A
NG_011971.2:g.71149G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024915.4:c.454G>A MANE Select NP_079191.2:p.Val152Met
ENST00000646743.1:c.454G>A MANE Select ENSP00000495564.1:p.Val152Met
NM_001330593.1:c.406G>A NP_001317522.1:p.Val136Met
NM_001330593.2:c.406G>A NP_001317522.1:p.Val136Met
NM_024915.3:c.454G>A NP_079191.2:p.Val152Met
ENST00000251808.7:c.454G>A ENSP00000251808.3:p.Val152Met
ENST00000395927.1:c.406G>A ENSP00000379260.1:p.Val136Met
XM_011517305.1:c.406G>A XP_011515607.1:p.Val136Met
XM_011517306.1:c.406G>A XP_011515608.1:p.Val136Met
XM_011517306.3:c.406G>A XP_011515608.1:p.Val136Met
XM_011517307.1:c.454G>A XP_011515609.1:p.Val152Met
XM_011517307.3:c.454G>A XP_011515609.1:p.Val152Met