Canonical Allele Identifier: CA414844049

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869577C>A (hg19) ; chrY:g.19707691C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707691C>A , CM000686.2:g.19707691C>A	GRCh38
NC_000024.9:g.21869577C>A , CM000686.1:g.21869577C>A	GRCh37
NC_000024.8:g.20328965C>A	NCBI36
NG_032920.1:g.42249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3455G>T MANE Select	ENSP00000322408.4:p.Arg1152Leu
ENST00000317961.8:c.3455G>T	ENSP00000322408.4:p.Arg1152Leu
ENST00000382806.6:c.3284G>T	ENSP00000372256.2:p.Arg1095Leu
ENST00000415360.1:c.371G>T	ENSP00000389433.1:p.Arg124Leu
ENST00000440077.5:c.3332G>T	ENSP00000398543.1:p.Arg1111Leu
ENST00000469599.6:n.2053G>T
ENST00000492117.1:n.3347G>T
ENST00000541639.5:c.3548G>T	ENSP00000444293.1:p.Arg1183Leu
NM_001146705.1:c.3548G>T	NP_001140177.1:p.Arg1183Leu
NM_001146706.1:c.3284G>T	NP_001140178.1:p.Arg1095Leu
NM_004653.4:c.3455G>T	NP_004644.2:p.Arg1152Leu
XM_005262560.1:c.3320G>T	XP_005262617.1:p.Arg1107Leu
XM_005262561.1:c.3224G>T	XP_005262618.1:p.Arg1075Leu
XM_011531468.1:c.3377G>T	XP_011529770.1:p.Arg1126Leu
XR_244571.2:n.3743G>T
XR_430568.2:n.4077G>T
XM_005262560.3:c.3320G>T	XP_005262617.1:p.Arg1107Leu
XM_005262561.3:c.3224G>T	XP_005262618.1:p.Arg1075Leu
XM_011531468.3:c.3377G>T	XP_011529770.1:p.Arg1126Leu
XM_024452495.1:c.1445G>T	XP_024308263.1:p.Arg482Leu
XM_024452496.1:c.1211G>T	XP_024308264.1:p.Arg404Leu
XR_001756009.2:n.4193G>T
XR_001756010.2:n.4193G>T
XR_001756011.2:n.4058G>T
XR_001756012.2:n.4206G>T
XR_001756013.2:n.3524G>T
XR_002958832.1:n.3625G>T
XR_002958834.1:n.3849G>T
XR_002958835.1:n.3732G>T
XR_002958836.1:n.4415G>T
XR_002958837.1:n.4222G>T
XR_244571.4:n.3742G>T
XR_430568.4:n.4076G>T
NM_001146706.2:c.3284G>T	NP_001140178.1:p.Arg1095Leu
NM_004653.5:c.3455G>T MANE Select	NP_004644.2:p.Arg1152Leu
NM_001146705.2:c.3548G>T	NP_001140177.1:p.Arg1183Leu