Canonical Allele Identifier: CA414839726

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867881T>A (hg19) ; chrY:g.19705995T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705995T>A , CM000686.2:g.19705995T>A	GRCh38
NC_000024.9:g.21867881T>A , CM000686.1:g.21867881T>A	GRCh37
NC_000024.8:g.20327269T>A	NCBI36
NG_032920.1:g.43945A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.4620A>T MANE Select	ENSP00000322408.4:p.Ter1540Cys
ENST00000317961.8:c.4620A>T	ENSP00000322408.4:p.Ter1540Cys
ENST00000382806.6:c.4449A>T	ENSP00000372256.2:p.Ter1483Cys
ENST00000469599.6:n.3371A>T
ENST00000492117.1:n.4665A>T
ENST00000541639.5:c.4713A>T	ENSP00000444293.1:p.Ter1571Cys
NM_001146705.1:c.4713A>T	NP_001140177.1:p.Ter1571Cys
NM_001146706.1:c.4449A>T	NP_001140178.1:p.Ter1483Cys
NM_004653.4:c.4620A>T	NP_004644.2:p.Ter1540Cys
XM_005262560.1:c.4485A>T	XP_005262617.1:p.Ter1495Cys
XM_005262561.1:c.4389A>T	XP_005262618.1:p.Ter1463Cys
XM_011531468.1:c.4542A>T	XP_011529770.1:p.Ter1514Cys
XR_430568.2:n.5395A>T
XM_005262560.3:c.4485A>T	XP_005262617.1:p.Ter1495Cys
XM_005262561.3:c.4389A>T	XP_005262618.1:p.Ter1463Cys
XM_011531468.3:c.4542A>T	XP_011529770.1:p.Ter1514Cys
XM_024452495.1:c.2610A>T	XP_024308263.1:p.Ter870Cys
XM_024452496.1:c.2376A>T	XP_024308264.1:p.Ter792Cys
XR_001756009.2:n.5358A>T
XR_001756010.2:n.5326A>T
XR_001756011.2:n.5223A>T
XR_001756012.2:n.5371A>T
XR_001756013.2:n.4689A>T
XR_002958832.1:n.4943A>T
XR_002958834.1:n.5014A>T
XR_002958835.1:n.4897A>T
XR_002958836.1:n.5548A>T
XR_002958837.1:n.5355A>T
XR_244571.4:n.4875A>T
XR_430568.4:n.5394A>T
NM_001146706.2:c.4449A>T	NP_001140178.1:p.Ter1483Cys
NM_004653.5:c.4620A>T MANE Select	NP_004644.2:p.Ter1540Cys
NM_001146705.2:c.4713A>T	NP_001140177.1:p.Ter1571Cys