Canonical Allele Identifier: CA414843652

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869463T>A (hg19) ; chrY:g.19707577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707577T>A , CM000686.2:g.19707577T>A	GRCh38
NC_000024.9:g.21869463T>A , CM000686.1:g.21869463T>A	GRCh37
NC_000024.8:g.20328851T>A	NCBI36
NG_032920.1:g.42363A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3569A>T MANE Select	ENSP00000322408.4:p.Asp1190Val
ENST00000317961.8:c.3569A>T	ENSP00000322408.4:p.Asp1190Val
ENST00000382806.6:c.3398A>T	ENSP00000372256.2:p.Asp1133Val
ENST00000415360.1:c.485A>T	ENSP00000389433.1:p.Asp162Val
ENST00000440077.5:c.3446A>T	ENSP00000398543.1:p.Asp1149Val
ENST00000469599.6:n.2167A>T
ENST00000492117.1:n.3461A>T
ENST00000541639.5:c.3662A>T	ENSP00000444293.1:p.Asp1221Val
NM_001146705.1:c.3662A>T	NP_001140177.1:p.Asp1221Val
NM_001146706.1:c.3398A>T	NP_001140178.1:p.Asp1133Val
NM_004653.4:c.3569A>T	NP_004644.2:p.Asp1190Val
XM_005262560.1:c.3434A>T	XP_005262617.1:p.Asp1145Val
XM_005262561.1:c.3338A>T	XP_005262618.1:p.Asp1113Val
XM_011531468.1:c.3491A>T	XP_011529770.1:p.Asp1164Val
XR_244571.2:n.3857A>T
XR_430568.2:n.4191A>T
XM_005262560.3:c.3434A>T	XP_005262617.1:p.Asp1145Val
XM_005262561.3:c.3338A>T	XP_005262618.1:p.Asp1113Val
XM_011531468.3:c.3491A>T	XP_011529770.1:p.Asp1164Val
XM_024452495.1:c.1559A>T	XP_024308263.1:p.Asp520Val
XM_024452496.1:c.1325A>T	XP_024308264.1:p.Asp442Val
XR_001756009.2:n.4307A>T
XR_001756010.2:n.4307A>T
XR_001756011.2:n.4172A>T
XR_001756012.2:n.4320A>T
XR_001756013.2:n.3638A>T
XR_002958832.1:n.3739A>T
XR_002958834.1:n.3963A>T
XR_002958835.1:n.3846A>T
XR_002958836.1:n.4529A>T
XR_002958837.1:n.4336A>T
XR_244571.4:n.3856A>T
XR_430568.4:n.4190A>T
NM_001146706.2:c.3398A>T	NP_001140178.1:p.Asp1133Val
NM_004653.5:c.3569A>T MANE Select	NP_004644.2:p.Asp1190Val
NM_001146705.2:c.3662A>T	NP_001140177.1:p.Asp1221Val