Canonical Allele Identifier: CA520160833

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869861G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707975G>A , CM000686.2:g.19707975G>A	GRCh38
NC_000024.9:g.21869861G>A , CM000686.1:g.21869861G>A	GRCh37
NC_000024.8:g.20329249G>A	NCBI36
NG_032920.1:g.41965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3358C>T MANE Select	ENSP00000322408.4:p.Leu1120=
ENST00000317961.8:c.3358C>T	ENSP00000322408.4:p.Leu1120=
ENST00000382806.6:c.3187C>T	ENSP00000372256.2:p.Leu1063=
ENST00000415360.1:c.274C>T	ENSP00000389433.1:p.Leu92=
ENST00000440077.5:c.3235C>T	ENSP00000398543.1:p.Leu1079=
ENST00000469599.6:n.1956C>T
ENST00000492117.1:n.3250C>T
ENST00000541639.5:c.3451C>T	ENSP00000444293.1:p.Leu1151=
NM_001146705.1:c.3451C>T	NP_001140177.1:p.Leu1151=
NM_001146706.1:c.3187C>T	NP_001140178.1:p.Leu1063=
NM_004653.4:c.3358C>T	NP_004644.2:p.Leu1120=
XM_005262560.1:c.3223C>T	XP_005262617.1:p.Leu1075=
XM_005262561.1:c.3127C>T	XP_005262618.1:p.Leu1043=
XM_011531468.1:c.3280C>T	XP_011529770.1:p.Leu1094=
XR_244571.2:n.3646C>T
XR_430568.2:n.3980C>T
XM_005262560.3:c.3223C>T	XP_005262617.1:p.Leu1075=
XM_005262561.3:c.3127C>T	XP_005262618.1:p.Leu1043=
XM_011531468.3:c.3280C>T	XP_011529770.1:p.Leu1094=
XM_024452495.1:c.1348C>T	XP_024308263.1:p.Leu450=
XM_024452496.1:c.1114C>T	XP_024308264.1:p.Leu372=
XR_001756009.2:n.4096C>T
XR_001756010.2:n.4096C>T
XR_001756011.2:n.3961C>T
XR_001756012.2:n.4109C>T
XR_001756013.2:n.3427C>T
XR_002958832.1:n.3528C>T
XR_002958834.1:n.3752C>T
XR_002958835.1:n.3635C>T
XR_002958836.1:n.4318C>T
XR_002958837.1:n.4125C>T
XR_244571.4:n.3645C>T
XR_430568.4:n.3979C>T
NM_001146706.2:c.3187C>T	NP_001140178.1:p.Leu1063=
NM_004653.5:c.3358C>T MANE Select	NP_004644.2:p.Leu1120=
NM_001146705.2:c.3451C>T	NP_001140177.1:p.Leu1151=