Canonical Allele Identifier: CA414844380

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869866T>A (hg19) ; chrY:g.19707980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707980T>A , CM000686.2:g.19707980T>A	GRCh38
NC_000024.9:g.21869866T>A , CM000686.1:g.21869866T>A	GRCh37
NC_000024.8:g.20329254T>A	NCBI36
NG_032920.1:g.41960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3353A>T MANE Select	ENSP00000322408.4:p.Glu1118Val
ENST00000317961.8:c.3353A>T	ENSP00000322408.4:p.Glu1118Val
ENST00000382806.6:c.3182A>T	ENSP00000372256.2:p.Glu1061Val
ENST00000415360.1:c.269A>T	ENSP00000389433.1:p.Glu90Val
ENST00000440077.5:c.3230A>T	ENSP00000398543.1:p.Glu1077Val
ENST00000469599.6:n.1951A>T
ENST00000492117.1:n.3245A>T
ENST00000541639.5:c.3446A>T	ENSP00000444293.1:p.Glu1149Val
NM_001146705.1:c.3446A>T	NP_001140177.1:p.Glu1149Val
NM_001146706.1:c.3182A>T	NP_001140178.1:p.Glu1061Val
NM_004653.4:c.3353A>T	NP_004644.2:p.Glu1118Val
XM_005262560.1:c.3218A>T	XP_005262617.1:p.Glu1073Val
XM_005262561.1:c.3122A>T	XP_005262618.1:p.Glu1041Val
XM_011531468.1:c.3275A>T	XP_011529770.1:p.Glu1092Val
XR_244571.2:n.3641A>T
XR_430568.2:n.3975A>T
XM_005262560.3:c.3218A>T	XP_005262617.1:p.Glu1073Val
XM_005262561.3:c.3122A>T	XP_005262618.1:p.Glu1041Val
XM_011531468.3:c.3275A>T	XP_011529770.1:p.Glu1092Val
XM_024452495.1:c.1343A>T	XP_024308263.1:p.Glu448Val
XM_024452496.1:c.1109A>T	XP_024308264.1:p.Glu370Val
XR_001756009.2:n.4091A>T
XR_001756010.2:n.4091A>T
XR_001756011.2:n.3956A>T
XR_001756012.2:n.4104A>T
XR_001756013.2:n.3422A>T
XR_002958832.1:n.3523A>T
XR_002958834.1:n.3747A>T
XR_002958835.1:n.3630A>T
XR_002958836.1:n.4313A>T
XR_002958837.1:n.4120A>T
XR_244571.4:n.3640A>T
XR_430568.4:n.3974A>T
NM_001146706.2:c.3182A>T	NP_001140178.1:p.Glu1061Val
NM_004653.5:c.3353A>T MANE Select	NP_004644.2:p.Glu1118Val
NM_001146705.2:c.3446A>T	NP_001140177.1:p.Glu1149Val