Canonical Allele Identifier: CA201812625
Community Standard Title: NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137619041G>A , CM000671.2:g.137619041G>A GRCh38
NC_000009.11:g.140513493G>A , CM000671.1:g.140513493G>A GRCh37
NC_000009.10:g.139633314G>A NCBI36
NG_011776.1:g.5050G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.13G>A MANE Select NP_079033.4:p.Asp5Asn
ENST00000460843.6:c.13G>A MANE Select ENSP00000417980.1:p.Asp5Asn
NM_001145527.1:c.13G>A NP_001138999.1:p.Asp5Asn
NM_001145527.2:c.13G>A NP_001138999.1:p.Asp5Asn
NM_001354259.1:c.-17G>A NP_001341188.1:n.-17G>A
NM_001354259.2:c.-17G>A NP_001341188.1:n.-17G>A
NM_001354263.1:c.13G>A NP_001341192.1:p.Asp5Asn
NM_001354263.2:c.13G>A NP_001341192.1:p.Asp5Asn
NM_001354611.1:c.13G>A NP_001341540.1:p.Asp5Asn
NM_001354611.2:c.13G>A NP_001341540.1:p.Asp5Asn
NM_001354612.1:c.-17G>A NP_001341541.1:n.-17G>A
NM_001354612.2:c.-17G>A NP_001341541.1:n.-17G>A
NM_024757.4:c.13G>A NP_079033.4:p.Asp5Asn
ENST00000371394.6:c.13G>A ENSP00000485945.1:p.Asp5Asn
ENST00000460843.5:c.13G>A ENSP00000417980.1:p.Asp5Asn
ENST00000462484.5:c.13G>A ENSP00000417328.1:p.Asp5Asn
ENST00000626216.2:c.-204G>A ENSP00000485878.1:n.-204G>A
ENST00000629335.2:c.13G>A ENSP00000490056.1:p.Asp5Asn
ENST00000630754.2:c.-259G>A ENSP00000485933.1:n.-259G>A
ENST00000637593.1:n.32G>A
XM_005266110.1:c.-17G>A XP_005266167.1:n.-17G>A
XM_017015136.2:c.13G>A XP_016870625.1:p.Asp5Asn
XM_017015138.1:c.-17G>A XP_016870627.1:n.-17G>A