Canonical Allele Identifier: CA414843115

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869316C>G (hg19) ; chrY:g.19707430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707430C>G , CM000686.2:g.19707430C>G	GRCh38
NC_000024.9:g.21869316C>G , CM000686.1:g.21869316C>G	GRCh37
NC_000024.8:g.20328704C>G	NCBI36
NG_032920.1:g.42510G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3716G>C MANE Select	ENSP00000322408.4:p.Arg1239Pro
ENST00000317961.8:c.3716G>C	ENSP00000322408.4:p.Arg1239Pro
ENST00000382806.6:c.3545G>C	ENSP00000372256.2:p.Arg1182Pro
ENST00000415360.1:c.632G>C	ENSP00000389433.1:p.Arg211Pro
ENST00000440077.5:c.3593G>C	ENSP00000398543.1:p.Arg1198Pro
ENST00000469599.6:n.2314G>C
ENST00000492117.1:n.3608G>C
ENST00000541639.5:c.3809G>C	ENSP00000444293.1:p.Arg1270Pro
NM_001146705.1:c.3809G>C	NP_001140177.1:p.Arg1270Pro
NM_001146706.1:c.3545G>C	NP_001140178.1:p.Arg1182Pro
NM_004653.4:c.3716G>C	NP_004644.2:p.Arg1239Pro
XM_005262560.1:c.3581G>C	XP_005262617.1:p.Arg1194Pro
XM_005262561.1:c.3485G>C	XP_005262618.1:p.Arg1162Pro
XM_011531468.1:c.3638G>C	XP_011529770.1:p.Arg1213Pro
XR_244571.2:n.4004G>C
XR_430568.2:n.4338G>C
XM_005262560.3:c.3581G>C	XP_005262617.1:p.Arg1194Pro
XM_005262561.3:c.3485G>C	XP_005262618.1:p.Arg1162Pro
XM_011531468.3:c.3638G>C	XP_011529770.1:p.Arg1213Pro
XM_024452495.1:c.1706G>C	XP_024308263.1:p.Arg569Pro
XM_024452496.1:c.1472G>C	XP_024308264.1:p.Arg491Pro
XR_001756009.2:n.4454G>C
XR_001756010.2:n.4454G>C
XR_001756011.2:n.4319G>C
XR_001756012.2:n.4467G>C
XR_001756013.2:n.3785G>C
XR_002958832.1:n.3886G>C
XR_002958834.1:n.4110G>C
XR_002958835.1:n.3993G>C
XR_002958836.1:n.4676G>C
XR_002958837.1:n.4483G>C
XR_244571.4:n.4003G>C
XR_430568.4:n.4337G>C
NM_001146706.2:c.3545G>C	NP_001140178.1:p.Arg1182Pro
NM_004653.5:c.3716G>C MANE Select	NP_004644.2:p.Arg1239Pro
NM_001146705.2:c.3809G>C	NP_001140177.1:p.Arg1270Pro