Canonical Allele Identifier: CA393055933
Community Standard Title: NM_001012642.3(GRAMD2A):c.67G>T (p.Ala23Ser)
Gene: GRAMD2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72169914C>A , CM000677.2:g.72169914C>A GRCh38
NC_000015.9:g.72462255C>A , CM000677.1:g.72462255C>A GRCh37
NC_000015.8:g.70249309C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001012642.3:c.67G>T MANE Select NP_001012660.1:p.Ala23Ser
ENST00000309731.12:c.67G>T MANE Select ENSP00000311657.7:p.Ala23Ser
NM_001012642.2:c.67G>T NP_001012660.1:p.Ala23Ser
ENST00000309731.11:c.67G>T ENSP00000311657.7:p.Ala23Ser
ENST00000562288.1:c.31G>T ENSP00000457155.1:p.Ala11Ser
ENST00000563133.5:n.222G>T
ENST00000564129.5:c.37G>T ENSP00000457660.1:p.Ala13Ser
ENST00000568594.5:c.46G>T ENSP00000457383.1:p.Ala16Ser
ENST00000570275.5:c.31G>T ENSP00000457088.1:p.Ala11Ser
XM_011521327.1:c.64G>T XP_011519629.1:p.Ala22Ser
XM_011521327.2:c.64G>T XP_011519629.1:p.Ala22Ser
XM_011521328.1:c.61G>T XP_011519630.1:p.Ala21Ser
XM_011521328.3:c.61G>T XP_011519630.1:p.Ala21Ser
XM_011521329.1:c.37G>T XP_011519631.1:p.Ala13Ser
XM_011521329.2:c.37G>T XP_011519631.1:p.Ala13Ser
XM_011521330.1:c.31G>T XP_011519632.1:p.Ala11Ser
XM_011521330.2:c.31G>T XP_011519632.1:p.Ala11Ser
XM_011521331.1:c.67G>T XP_011519633.1:p.Ala23Ser
XM_011521331.2:c.67G>T XP_011519633.1:p.Ala23Ser
XM_011521332.1:c.-189G>T XP_011519634.1:n.-189G>T
XM_011521332.3:c.-189G>T XP_011519634.1:n.-189G>T
XM_011521333.1:c.-189G>T XP_011519635.1:n.-189G>T
XM_011521333.3:c.-189G>T XP_011519635.1:n.-189G>T
XM_017021997.1:c.-173G>T XP_016877486.1:n.-173G>T
XM_017021998.1:c.-173G>T XP_016877487.1:n.-173G>T
XM_024449868.1:c.16G>T XP_024305636.1:p.Ala6Ser