Canonical Allele Identifier: CA520516505

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869372T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707486T>G , CM000686.2:g.19707486T>G	GRCh38
NC_000024.9:g.21869372T>G , CM000686.1:g.21869372T>G	GRCh37
NC_000024.8:g.20328760T>G	NCBI36
NG_032920.1:g.42454A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3660A>C MANE Select	ENSP00000322408.4:p.Leu1220=
ENST00000317961.8:c.3660A>C	ENSP00000322408.4:p.Leu1220=
ENST00000382806.6:c.3489A>C	ENSP00000372256.2:p.Leu1163=
ENST00000415360.1:c.576A>C	ENSP00000389433.1:p.Leu192=
ENST00000440077.5:c.3537A>C	ENSP00000398543.1:p.Leu1179=
ENST00000469599.6:n.2258A>C
ENST00000492117.1:n.3552A>C
ENST00000541639.5:c.3753A>C	ENSP00000444293.1:p.Leu1251=
NM_001146705.1:c.3753A>C	NP_001140177.1:p.Leu1251=
NM_001146706.1:c.3489A>C	NP_001140178.1:p.Leu1163=
NM_004653.4:c.3660A>C	NP_004644.2:p.Leu1220=
XM_005262560.1:c.3525A>C	XP_005262617.1:p.Leu1175=
XM_005262561.1:c.3429A>C	XP_005262618.1:p.Leu1143=
XM_011531468.1:c.3582A>C	XP_011529770.1:p.Leu1194=
XR_244571.2:n.3948A>C
XR_430568.2:n.4282A>C
XM_005262560.3:c.3525A>C	XP_005262617.1:p.Leu1175=
XM_005262561.3:c.3429A>C	XP_005262618.1:p.Leu1143=
XM_011531468.3:c.3582A>C	XP_011529770.1:p.Leu1194=
XM_024452495.1:c.1650A>C	XP_024308263.1:p.Leu550=
XM_024452496.1:c.1416A>C	XP_024308264.1:p.Leu472=
XR_001756009.2:n.4398A>C
XR_001756010.2:n.4398A>C
XR_001756011.2:n.4263A>C
XR_001756012.2:n.4411A>C
XR_001756013.2:n.3729A>C
XR_002958832.1:n.3830A>C
XR_002958834.1:n.4054A>C
XR_002958835.1:n.3937A>C
XR_002958836.1:n.4620A>C
XR_002958837.1:n.4427A>C
XR_244571.4:n.3947A>C
XR_430568.4:n.4281A>C
NM_001146706.2:c.3489A>C	NP_001140178.1:p.Leu1163=
NM_004653.5:c.3660A>C MANE Select	NP_004644.2:p.Leu1220=
NM_001146705.2:c.3753A>C	NP_001140177.1:p.Leu1251=