Canonical Allele Identifier: CA414984813

Gene: DDX3Y

Linked Data

• MyVariant Identifiers: chrY:g.15026548T>A (hg19) ; chrY:g.12914636T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12914636T>A , CM000686.2:g.12914636T>A	GRCh38
NC_000024.9:g.15026548T>A , CM000686.1:g.15026548T>A	GRCh37
NC_000024.8:g.13535942T>A	NCBI36
NG_012831.1:g.15530T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336079.8:c.746T>A MANE Select	ENSP00000336725.3:p.Leu249Ter
ENST00000336079.7:c.746T>A	ENSP00000336725.3:p.Leu249Ter
ENST00000360160.8:c.746T>A	ENSP00000353284.4:p.Leu249Ter
ENST00000440554.1:c.737T>A	ENSP00000400377.1:p.Leu246Ter
ENST00000463199.1:n.264T>A
ENST00000472510.5:n.309T>A
NM_001122665.2:c.746T>A	NP_001116137.1:p.Leu249Ter
NM_001302552.1:c.737T>A	NP_001289481.1:p.Leu246Ter
NM_004660.4:c.746T>A	NP_004651.2:p.Leu249Ter
XM_006724878.1:c.746T>A	XP_006724941.1:p.Leu249Ter
XM_011531471.1:c.746T>A	XP_011529773.1:p.Leu249Ter
NM_001122665.3:c.746T>A	NP_001116137.1:p.Leu249Ter
NM_001302552.2:c.737T>A	NP_001289481.1:p.Leu246Ter
NM_001324195.1:c.746T>A	NP_001311124.1:p.Leu249Ter
NR_136716.1:n.897T>A
NR_136717.1:n.977T>A
NR_136718.1:n.977T>A
NR_136719.1:n.767T>A
NR_136720.1:n.897T>A
NR_136721.1:n.825T>A
NR_136722.1:n.892T>A
NR_136723.1:n.892T>A
NR_136724.1:n.812T>A
XR_001756014.2:n.850T>A
NM_004660.5:c.746T>A MANE Select	NP_004651.2:p.Leu249Ter
NM_001302552.3:c.737T>A	NP_001289481.1:p.Leu246Ter
NM_001324195.2:c.746T>A	NP_001311124.1:p.Leu249Ter
NR_136716.2:n.815T>A
NR_136717.2:n.895T>A
NR_136718.2:n.895T>A
NR_136719.2:n.685T>A
NR_136720.2:n.815T>A
NR_136721.2:n.815T>A