Canonical Allele Identifier: CA414843402

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869400T>G (hg19) ; chrY:g.19707514T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707514T>G , CM000686.2:g.19707514T>G	GRCh38
NC_000024.9:g.21869400T>G , CM000686.1:g.21869400T>G	GRCh37
NC_000024.8:g.20328788T>G	NCBI36
NG_032920.1:g.42426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3632A>C MANE Select	ENSP00000322408.4:p.Lys1211Thr
ENST00000317961.8:c.3632A>C	ENSP00000322408.4:p.Lys1211Thr
ENST00000382806.6:c.3461A>C	ENSP00000372256.2:p.Lys1154Thr
ENST00000415360.1:c.548A>C	ENSP00000389433.1:p.Lys183Thr
ENST00000440077.5:c.3509A>C	ENSP00000398543.1:p.Lys1170Thr
ENST00000469599.6:n.2230A>C
ENST00000492117.1:n.3524A>C
ENST00000541639.5:c.3725A>C	ENSP00000444293.1:p.Lys1242Thr
NM_001146705.1:c.3725A>C	NP_001140177.1:p.Lys1242Thr
NM_001146706.1:c.3461A>C	NP_001140178.1:p.Lys1154Thr
NM_004653.4:c.3632A>C	NP_004644.2:p.Lys1211Thr
XM_005262560.1:c.3497A>C	XP_005262617.1:p.Lys1166Thr
XM_005262561.1:c.3401A>C	XP_005262618.1:p.Lys1134Thr
XM_011531468.1:c.3554A>C	XP_011529770.1:p.Lys1185Thr
XR_244571.2:n.3920A>C
XR_430568.2:n.4254A>C
XM_005262560.3:c.3497A>C	XP_005262617.1:p.Lys1166Thr
XM_005262561.3:c.3401A>C	XP_005262618.1:p.Lys1134Thr
XM_011531468.3:c.3554A>C	XP_011529770.1:p.Lys1185Thr
XM_024452495.1:c.1622A>C	XP_024308263.1:p.Lys541Thr
XM_024452496.1:c.1388A>C	XP_024308264.1:p.Lys463Thr
XR_001756009.2:n.4370A>C
XR_001756010.2:n.4370A>C
XR_001756011.2:n.4235A>C
XR_001756012.2:n.4383A>C
XR_001756013.2:n.3701A>C
XR_002958832.1:n.3802A>C
XR_002958834.1:n.4026A>C
XR_002958835.1:n.3909A>C
XR_002958836.1:n.4592A>C
XR_002958837.1:n.4399A>C
XR_244571.4:n.3919A>C
XR_430568.4:n.4253A>C
NM_001146706.2:c.3461A>C	NP_001140178.1:p.Lys1154Thr
NM_004653.5:c.3632A>C MANE Select	NP_004644.2:p.Lys1211Thr
NM_001146705.2:c.3725A>C	NP_001140177.1:p.Lys1242Thr