Canonical Allele Identifier: CA2486866

Gene: EOGT

Linked Data

• dbSNP Id: rs368167993
• ExAC: 3:69053540 A / T
• gnomAD v2: 3-69053540-A-T
• gnomAD v4: 3-69004389-A-T
• MyVariant Identifiers: chr3:g.69053540A>T (hg19) ; chr3:g.69004389A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69004389A>T , CM000665.2:g.69004389A>T	GRCh38
NC_000003.11:g.69053540A>T , CM000665.1:g.69053540A>T	GRCh37
NC_000003.10:g.69136230A>T	NCBI36
NG_042829.1:g.14506T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383701.8:c.609T>A MANE Select	ENSP00000373206.3:p.Pro203=
ENST00000295571.9:c.609T>A	ENSP00000295571.5:p.Pro203=
ENST00000383701.7:c.609T>A	ENSP00000373206.3:p.Pro203=
ENST00000403140.6:c.609T>A	ENSP00000384124.2:p.Pro203=
ENST00000540764.5:c.609T>A	ENSP00000443780.2:p.Pro203=
ENST00000540955.5:c.609T>A	ENSP00000444264.2:p.Pro203=
NM_001278689.1:c.609T>A	NP_001265618.1:p.Pro203=
NM_173654.2:c.609T>A	NP_775925.1:p.Pro203=
NR_103826.1:n.1285T>A
XM_005264743.2:c.609T>A	XP_005264800.1:p.Pro203=
XM_011533599.1:c.609T>A	XP_011531901.1:p.Pro203=
XM_011533600.1:c.609T>A	XP_011531902.1:p.Pro203=
XM_011533601.1:c.609T>A	XP_011531903.1:p.Pro203=
XM_011533602.1:c.609T>A	XP_011531904.1:p.Pro203=
XM_011533603.1:c.609T>A	XP_011531905.1:p.Pro203=
XM_011533604.1:c.609T>A	XP_011531906.1:p.Pro203=
XM_011533605.1:c.609T>A	XP_011531907.1:p.Pro203=
XM_017006204.1:c.609T>A	XP_016861693.1:p.Pro203=
XM_017006205.1:c.609T>A	XP_016861694.1:p.Pro203=
XM_017006206.1:c.609T>A	XP_016861695.1:p.Pro203=
XM_017006207.1:c.-20T>A	XP_016861696.1:n.-20T>A
XM_017006208.1:c.609T>A	XP_016861697.1:p.Pro203=
NM_001278689.2:c.609T>A MANE Select	NP_001265618.1:p.Pro203=
NM_173654.3:c.609T>A	NP_775925.1:p.Pro203=
NR_103826.2:n.1075T>A