Canonical Allele Identifier: CA414843171

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869332A>G (hg19) ; chrY:g.19707446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707446A>G , CM000686.2:g.19707446A>G	GRCh38
NC_000024.9:g.21869332A>G , CM000686.1:g.21869332A>G	GRCh37
NC_000024.8:g.20328720A>G	NCBI36
NG_032920.1:g.42494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3700T>C MANE Select	ENSP00000322408.4:p.Cys1234Arg
ENST00000317961.8:c.3700T>C	ENSP00000322408.4:p.Cys1234Arg
ENST00000382806.6:c.3529T>C	ENSP00000372256.2:p.Cys1177Arg
ENST00000415360.1:c.616T>C	ENSP00000389433.1:p.Cys206Arg
ENST00000440077.5:c.3577T>C	ENSP00000398543.1:p.Cys1193Arg
ENST00000469599.6:n.2298T>C
ENST00000492117.1:n.3592T>C
ENST00000541639.5:c.3793T>C	ENSP00000444293.1:p.Cys1265Arg
NM_001146705.1:c.3793T>C	NP_001140177.1:p.Cys1265Arg
NM_001146706.1:c.3529T>C	NP_001140178.1:p.Cys1177Arg
NM_004653.4:c.3700T>C	NP_004644.2:p.Cys1234Arg
XM_005262560.1:c.3565T>C	XP_005262617.1:p.Cys1189Arg
XM_005262561.1:c.3469T>C	XP_005262618.1:p.Cys1157Arg
XM_011531468.1:c.3622T>C	XP_011529770.1:p.Cys1208Arg
XR_244571.2:n.3988T>C
XR_430568.2:n.4322T>C
XM_005262560.3:c.3565T>C	XP_005262617.1:p.Cys1189Arg
XM_005262561.3:c.3469T>C	XP_005262618.1:p.Cys1157Arg
XM_011531468.3:c.3622T>C	XP_011529770.1:p.Cys1208Arg
XM_024452495.1:c.1690T>C	XP_024308263.1:p.Cys564Arg
XM_024452496.1:c.1456T>C	XP_024308264.1:p.Cys486Arg
XR_001756009.2:n.4438T>C
XR_001756010.2:n.4438T>C
XR_001756011.2:n.4303T>C
XR_001756012.2:n.4451T>C
XR_001756013.2:n.3769T>C
XR_002958832.1:n.3870T>C
XR_002958834.1:n.4094T>C
XR_002958835.1:n.3977T>C
XR_002958836.1:n.4660T>C
XR_002958837.1:n.4467T>C
XR_244571.4:n.3987T>C
XR_430568.4:n.4321T>C
NM_001146706.2:c.3529T>C	NP_001140178.1:p.Cys1177Arg
NM_004653.5:c.3700T>C MANE Select	NP_004644.2:p.Cys1234Arg
NM_001146705.2:c.3793T>C	NP_001140177.1:p.Cys1265Arg