Canonical Allele Identifier: CA414843557

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869442T>G (hg19) ; chrY:g.19707556T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707556T>G , CM000686.2:g.19707556T>G	GRCh38
NC_000024.9:g.21869442T>G , CM000686.1:g.21869442T>G	GRCh37
NC_000024.8:g.20328830T>G	NCBI36
NG_032920.1:g.42384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3590A>C MANE Select	ENSP00000322408.4:p.His1197Pro
ENST00000317961.8:c.3590A>C	ENSP00000322408.4:p.His1197Pro
ENST00000382806.6:c.3419A>C	ENSP00000372256.2:p.His1140Pro
ENST00000415360.1:c.506A>C	ENSP00000389433.1:p.His169Pro
ENST00000440077.5:c.3467A>C	ENSP00000398543.1:p.His1156Pro
ENST00000469599.6:n.2188A>C
ENST00000492117.1:n.3482A>C
ENST00000541639.5:c.3683A>C	ENSP00000444293.1:p.His1228Pro
NM_001146705.1:c.3683A>C	NP_001140177.1:p.His1228Pro
NM_001146706.1:c.3419A>C	NP_001140178.1:p.His1140Pro
NM_004653.4:c.3590A>C	NP_004644.2:p.His1197Pro
XM_005262560.1:c.3455A>C	XP_005262617.1:p.His1152Pro
XM_005262561.1:c.3359A>C	XP_005262618.1:p.His1120Pro
XM_011531468.1:c.3512A>C	XP_011529770.1:p.His1171Pro
XR_244571.2:n.3878A>C
XR_430568.2:n.4212A>C
XM_005262560.3:c.3455A>C	XP_005262617.1:p.His1152Pro
XM_005262561.3:c.3359A>C	XP_005262618.1:p.His1120Pro
XM_011531468.3:c.3512A>C	XP_011529770.1:p.His1171Pro
XM_024452495.1:c.1580A>C	XP_024308263.1:p.His527Pro
XM_024452496.1:c.1346A>C	XP_024308264.1:p.His449Pro
XR_001756009.2:n.4328A>C
XR_001756010.2:n.4328A>C
XR_001756011.2:n.4193A>C
XR_001756012.2:n.4341A>C
XR_001756013.2:n.3659A>C
XR_002958832.1:n.3760A>C
XR_002958834.1:n.3984A>C
XR_002958835.1:n.3867A>C
XR_002958836.1:n.4550A>C
XR_002958837.1:n.4357A>C
XR_244571.4:n.3877A>C
XR_430568.4:n.4211A>C
NM_001146706.2:c.3419A>C	NP_001140178.1:p.His1140Pro
NM_004653.5:c.3590A>C MANE Select	NP_004644.2:p.His1197Pro
NM_001146705.2:c.3683A>C	NP_001140177.1:p.His1228Pro