Canonical Allele Identifier: CA414843240

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869355T>A (hg19) ; chrY:g.19707469T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707469T>A , CM000686.2:g.19707469T>A	GRCh38
NC_000024.9:g.21869355T>A , CM000686.1:g.21869355T>A	GRCh37
NC_000024.8:g.20328743T>A	NCBI36
NG_032920.1:g.42471A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3677A>T MANE Select	ENSP00000322408.4:p.Asp1226Val
ENST00000317961.8:c.3677A>T	ENSP00000322408.4:p.Asp1226Val
ENST00000382806.6:c.3506A>T	ENSP00000372256.2:p.Asp1169Val
ENST00000415360.1:c.593A>T	ENSP00000389433.1:p.Asp198Val
ENST00000440077.5:c.3554A>T	ENSP00000398543.1:p.Asp1185Val
ENST00000469599.6:n.2275A>T
ENST00000492117.1:n.3569A>T
ENST00000541639.5:c.3770A>T	ENSP00000444293.1:p.Asp1257Val
NM_001146705.1:c.3770A>T	NP_001140177.1:p.Asp1257Val
NM_001146706.1:c.3506A>T	NP_001140178.1:p.Asp1169Val
NM_004653.4:c.3677A>T	NP_004644.2:p.Asp1226Val
XM_005262560.1:c.3542A>T	XP_005262617.1:p.Asp1181Val
XM_005262561.1:c.3446A>T	XP_005262618.1:p.Asp1149Val
XM_011531468.1:c.3599A>T	XP_011529770.1:p.Asp1200Val
XR_244571.2:n.3965A>T
XR_430568.2:n.4299A>T
XM_005262560.3:c.3542A>T	XP_005262617.1:p.Asp1181Val
XM_005262561.3:c.3446A>T	XP_005262618.1:p.Asp1149Val
XM_011531468.3:c.3599A>T	XP_011529770.1:p.Asp1200Val
XM_024452495.1:c.1667A>T	XP_024308263.1:p.Asp556Val
XM_024452496.1:c.1433A>T	XP_024308264.1:p.Asp478Val
XR_001756009.2:n.4415A>T
XR_001756010.2:n.4415A>T
XR_001756011.2:n.4280A>T
XR_001756012.2:n.4428A>T
XR_001756013.2:n.3746A>T
XR_002958832.1:n.3847A>T
XR_002958834.1:n.4071A>T
XR_002958835.1:n.3954A>T
XR_002958836.1:n.4637A>T
XR_002958837.1:n.4444A>T
XR_244571.4:n.3964A>T
XR_430568.4:n.4298A>T
NM_001146706.2:c.3506A>T	NP_001140178.1:p.Asp1169Val
NM_004653.5:c.3677A>T MANE Select	NP_004644.2:p.Asp1226Val
NM_001146705.2:c.3770A>T	NP_001140177.1:p.Asp1257Val