Canonical Allele Identifier: CA414843226

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869349T>G (hg19) ; chrY:g.19707463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707463T>G , CM000686.2:g.19707463T>G	GRCh38
NC_000024.9:g.21869349T>G , CM000686.1:g.21869349T>G	GRCh37
NC_000024.8:g.20328737T>G	NCBI36
NG_032920.1:g.42477A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3683A>C MANE Select	ENSP00000322408.4:p.Lys1228Thr
ENST00000317961.8:c.3683A>C	ENSP00000322408.4:p.Lys1228Thr
ENST00000382806.6:c.3512A>C	ENSP00000372256.2:p.Lys1171Thr
ENST00000415360.1:c.599A>C	ENSP00000389433.1:p.Lys200Thr
ENST00000440077.5:c.3560A>C	ENSP00000398543.1:p.Lys1187Thr
ENST00000469599.6:n.2281A>C
ENST00000492117.1:n.3575A>C
ENST00000541639.5:c.3776A>C	ENSP00000444293.1:p.Lys1259Thr
NM_001146705.1:c.3776A>C	NP_001140177.1:p.Lys1259Thr
NM_001146706.1:c.3512A>C	NP_001140178.1:p.Lys1171Thr
NM_004653.4:c.3683A>C	NP_004644.2:p.Lys1228Thr
XM_005262560.1:c.3548A>C	XP_005262617.1:p.Lys1183Thr
XM_005262561.1:c.3452A>C	XP_005262618.1:p.Lys1151Thr
XM_011531468.1:c.3605A>C	XP_011529770.1:p.Lys1202Thr
XR_244571.2:n.3971A>C
XR_430568.2:n.4305A>C
XM_005262560.3:c.3548A>C	XP_005262617.1:p.Lys1183Thr
XM_005262561.3:c.3452A>C	XP_005262618.1:p.Lys1151Thr
XM_011531468.3:c.3605A>C	XP_011529770.1:p.Lys1202Thr
XM_024452495.1:c.1673A>C	XP_024308263.1:p.Lys558Thr
XM_024452496.1:c.1439A>C	XP_024308264.1:p.Lys480Thr
XR_001756009.2:n.4421A>C
XR_001756010.2:n.4421A>C
XR_001756011.2:n.4286A>C
XR_001756012.2:n.4434A>C
XR_001756013.2:n.3752A>C
XR_002958832.1:n.3853A>C
XR_002958834.1:n.4077A>C
XR_002958835.1:n.3960A>C
XR_002958836.1:n.4643A>C
XR_002958837.1:n.4450A>C
XR_244571.4:n.3970A>C
XR_430568.4:n.4304A>C
NM_001146706.2:c.3512A>C	NP_001140178.1:p.Lys1171Thr
NM_004653.5:c.3683A>C MANE Select	NP_004644.2:p.Lys1228Thr
NM_001146705.2:c.3776A>C	NP_001140177.1:p.Lys1259Thr