Canonical Allele Identifier: CA414844432

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869879G>A (hg19) ; chrY:g.19707993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707993G>A , CM000686.2:g.19707993G>A	GRCh38
NC_000024.9:g.21869879G>A , CM000686.1:g.21869879G>A	GRCh37
NC_000024.8:g.20329267G>A	NCBI36
NG_032920.1:g.41947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3340C>T MANE Select	ENSP00000322408.4:p.Gln1114Ter
ENST00000317961.8:c.3340C>T	ENSP00000322408.4:p.Gln1114Ter
ENST00000382806.6:c.3169C>T	ENSP00000372256.2:p.Gln1057Ter
ENST00000415360.1:c.256C>T	ENSP00000389433.1:p.Gln86Ter
ENST00000440077.5:c.3217C>T	ENSP00000398543.1:p.Gln1073Ter
ENST00000469599.6:n.1938C>T
ENST00000492117.1:n.3232C>T
ENST00000541639.5:c.3433C>T	ENSP00000444293.1:p.Gln1145Ter
NM_001146705.1:c.3433C>T	NP_001140177.1:p.Gln1145Ter
NM_001146706.1:c.3169C>T	NP_001140178.1:p.Gln1057Ter
NM_004653.4:c.3340C>T	NP_004644.2:p.Gln1114Ter
XM_005262560.1:c.3205C>T	XP_005262617.1:p.Gln1069Ter
XM_005262561.1:c.3109C>T	XP_005262618.1:p.Gln1037Ter
XM_011531468.1:c.3262C>T	XP_011529770.1:p.Gln1088Ter
XR_244571.2:n.3628C>T
XR_430568.2:n.3962C>T
XM_005262560.3:c.3205C>T	XP_005262617.1:p.Gln1069Ter
XM_005262561.3:c.3109C>T	XP_005262618.1:p.Gln1037Ter
XM_011531468.3:c.3262C>T	XP_011529770.1:p.Gln1088Ter
XM_024452495.1:c.1330C>T	XP_024308263.1:p.Gln444Ter
XM_024452496.1:c.1096C>T	XP_024308264.1:p.Gln366Ter
XR_001756009.2:n.4078C>T
XR_001756010.2:n.4078C>T
XR_001756011.2:n.3943C>T
XR_001756012.2:n.4091C>T
XR_001756013.2:n.3409C>T
XR_002958832.1:n.3510C>T
XR_002958834.1:n.3734C>T
XR_002958835.1:n.3617C>T
XR_002958836.1:n.4300C>T
XR_002958837.1:n.4107C>T
XR_244571.4:n.3627C>T
XR_430568.4:n.3961C>T
NM_001146706.2:c.3169C>T	NP_001140178.1:p.Gln1057Ter
NM_004653.5:c.3340C>T MANE Select	NP_004644.2:p.Gln1114Ter
NM_001146705.2:c.3433C>T	NP_001140177.1:p.Gln1145Ter