Canonical Allele Identifier: CA414984830

Gene: DDX3Y

Linked Data

• MyVariant Identifiers: chrY:g.15026550A>C (hg19) ; chrY:g.12914638A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12914638A>C , CM000686.2:g.12914638A>C	GRCh38
NC_000024.9:g.15026550A>C , CM000686.1:g.15026550A>C	GRCh37
NC_000024.8:g.13535944A>C	NCBI36
NG_012831.1:g.15532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336079.8:c.748A>C MANE Select	ENSP00000336725.3:p.Lys250Gln
ENST00000336079.7:c.748A>C	ENSP00000336725.3:p.Lys250Gln
ENST00000360160.8:c.748A>C	ENSP00000353284.4:p.Lys250Gln
ENST00000440554.1:c.739A>C	ENSP00000400377.1:p.Lys247Gln
ENST00000463199.1:n.266A>C
ENST00000472510.5:n.311A>C
NM_001122665.2:c.748A>C	NP_001116137.1:p.Lys250Gln
NM_001302552.1:c.739A>C	NP_001289481.1:p.Lys247Gln
NM_004660.4:c.748A>C	NP_004651.2:p.Lys250Gln
XM_006724878.1:c.748A>C	XP_006724941.1:p.Lys250Gln
XM_011531471.1:c.748A>C	XP_011529773.1:p.Lys250Gln
NM_001122665.3:c.748A>C	NP_001116137.1:p.Lys250Gln
NM_001302552.2:c.739A>C	NP_001289481.1:p.Lys247Gln
NM_001324195.1:c.748A>C	NP_001311124.1:p.Lys250Gln
NR_136716.1:n.899A>C
NR_136717.1:n.979A>C
NR_136718.1:n.979A>C
NR_136719.1:n.769A>C
NR_136720.1:n.899A>C
NR_136721.1:n.827A>C
NR_136722.1:n.894A>C
NR_136723.1:n.894A>C
NR_136724.1:n.814A>C
XR_001756014.2:n.852A>C
NM_004660.5:c.748A>C MANE Select	NP_004651.2:p.Lys250Gln
NM_001302552.3:c.739A>C	NP_001289481.1:p.Lys247Gln
NM_001324195.2:c.748A>C	NP_001311124.1:p.Lys250Gln
NR_136716.2:n.817A>C
NR_136717.2:n.897A>C
NR_136718.2:n.897A>C
NR_136719.2:n.687A>C
NR_136720.2:n.817A>C
NR_136721.2:n.817A>C