Canonical Allele Identifier: CA5375115

Gene: EHMT1

Linked Data

• dbSNP Id: rs757024773
• ExAC: 9:140707550 G / A
• gnomAD v2: 9-140707550-G-A
• gnomAD v4: 9-137813098-G-A
• MyVariant Identifiers: chr9:g.140707550G>A (hg19) ; chr9:g.137813098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813098G>A , CM000671.2:g.137813098G>A	GRCh38
NC_000009.11:g.140707550G>A , CM000671.1:g.140707550G>A	GRCh37
NC_000009.10:g.139827371G>A	NCBI36
NG_011776.1:g.199107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2960G>A MANE Select	ENSP00000417980.1:p.Ser987Asn
ENST00000636027.1:c.2846G>A	ENSP00000489961.1:p.Ser949Asn
ENST00000637161.1:c.2867G>A	ENSP00000490328.1:p.Ser956Asn
ENST00000637261.1:c.3000G>A	ENSP00000490815.1:n.3000G>A
ENST00000637891.1:c.854G>A	ENSP00000490907.1:p.Ser285Asn
ENST00000460843.5:c.2960G>A	ENSP00000417980.1:p.Ser987Asn
ENST00000462942.3:c.1817G>A	ENSP00000436107.1:p.Ser606Asn
ENST00000486164.5:c.647G>A
ENST00000488242.2:n.486G>A
NM_024757.4:c.2960G>A	NP_079033.4:p.Ser987Asn
XM_005266105.3:c.2951G>A	XP_005266162.1:p.Ser984Asn
XM_005266110.1:c.2867G>A	XP_005266167.1:p.Ser956Asn
XM_006717288.2:c.2942G>A	XP_006717351.1:p.Ser981Asn
XM_011519021.1:c.2969G>A	XP_011517323.1:p.Ser990Asn
XM_011519022.1:c.2966G>A	XP_011517324.1:p.Ser989Asn
XM_011519023.1:c.2948G>A	XP_011517325.1:p.Ser983Asn
XM_011519024.1:c.2891G>A	XP_011517326.1:p.Ser964Asn
XM_011519025.1:c.2867G>A	XP_011517327.1:p.Ser956Asn
XM_011519026.1:c.2825G>A	XP_011517328.1:p.Ser942Asn
XM_011519029.1:c.1391G>A	XP_011517331.1:p.Ser464Asn
XM_011519030.1:c.743G>A	XP_011517332.1:p.Ser248Asn
XM_011519031.1:c.530G>A	XP_011517333.1:p.Ser177Asn
XM_011519032.1:c.530G>A	XP_011517334.1:p.Ser177Asn
XM_011519033.1:c.2804G>A	XP_011517335.1:p.Ser935Asn
NM_001354263.1:c.2939G>A	NP_001341192.1:p.Ser980Asn
XM_005266105.5:c.2951G>A	XP_005266162.1:p.Ser984Asn
XM_011519021.3:c.2969G>A	XP_011517323.1:p.Ser990Asn
XM_011519022.3:c.2966G>A	XP_011517324.1:p.Ser989Asn
XM_011519023.3:c.2948G>A	XP_011517325.1:p.Ser983Asn
XM_011519029.3:c.1391G>A	XP_011517331.1:p.Ser464Asn
XM_011519030.3:c.743G>A	XP_011517332.1:p.Ser248Asn
XM_017015134.1:c.2945G>A	XP_016870623.1:p.Ser982Asn
XM_017015136.2:c.2861G>A	XP_016870625.1:p.Ser954Asn
XM_017015137.1:c.2846G>A	XP_016870626.1:p.Ser949Asn
XM_017015138.1:c.2846G>A	XP_016870627.1:p.Ser949Asn
XM_024447674.1:c.2789G>A	XP_024303442.1:p.Ser930Asn
XM_024447675.1:c.2723G>A	XP_024303443.1:p.Ser908Asn
XM_024447676.1:c.2084G>A	XP_024303444.1:p.Ser695Asn
XM_024447677.1:c.2084G>A	XP_024303445.1:p.Ser695Asn
XM_024447680.1:c.2702G>A	XP_024303448.1:p.Ser901Asn
NM_024757.5:c.2960G>A MANE Select	NP_079033.4:p.Ser987Asn
NM_001354263.2:c.2939G>A	NP_001341192.1:p.Ser980Asn