Canonical Allele Identifier: CA414843917

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869538G>A (hg19) ; chrY:g.19707652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707652G>A , CM000686.2:g.19707652G>A	GRCh38
NC_000024.9:g.21869538G>A , CM000686.1:g.21869538G>A	GRCh37
NC_000024.8:g.20328926G>A	NCBI36
NG_032920.1:g.42288C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3494C>T MANE Select	ENSP00000322408.4:p.Ser1165Phe
ENST00000317961.8:c.3494C>T	ENSP00000322408.4:p.Ser1165Phe
ENST00000382806.6:c.3323C>T	ENSP00000372256.2:p.Ser1108Phe
ENST00000415360.1:c.410C>T	ENSP00000389433.1:p.Ser137Phe
ENST00000440077.5:c.3371C>T	ENSP00000398543.1:p.Ser1124Phe
ENST00000469599.6:n.2092C>T
ENST00000492117.1:n.3386C>T
ENST00000541639.5:c.3587C>T	ENSP00000444293.1:p.Ser1196Phe
NM_001146705.1:c.3587C>T	NP_001140177.1:p.Ser1196Phe
NM_001146706.1:c.3323C>T	NP_001140178.1:p.Ser1108Phe
NM_004653.4:c.3494C>T	NP_004644.2:p.Ser1165Phe
XM_005262560.1:c.3359C>T	XP_005262617.1:p.Ser1120Phe
XM_005262561.1:c.3263C>T	XP_005262618.1:p.Ser1088Phe
XM_011531468.1:c.3416C>T	XP_011529770.1:p.Ser1139Phe
XR_244571.2:n.3782C>T
XR_430568.2:n.4116C>T
XM_005262560.3:c.3359C>T	XP_005262617.1:p.Ser1120Phe
XM_005262561.3:c.3263C>T	XP_005262618.1:p.Ser1088Phe
XM_011531468.3:c.3416C>T	XP_011529770.1:p.Ser1139Phe
XM_024452495.1:c.1484C>T	XP_024308263.1:p.Ser495Phe
XM_024452496.1:c.1250C>T	XP_024308264.1:p.Ser417Phe
XR_001756009.2:n.4232C>T
XR_001756010.2:n.4232C>T
XR_001756011.2:n.4097C>T
XR_001756012.2:n.4245C>T
XR_001756013.2:n.3563C>T
XR_002958832.1:n.3664C>T
XR_002958834.1:n.3888C>T
XR_002958835.1:n.3771C>T
XR_002958836.1:n.4454C>T
XR_002958837.1:n.4261C>T
XR_244571.4:n.3781C>T
XR_430568.4:n.4115C>T
NM_001146706.2:c.3323C>T	NP_001140178.1:p.Ser1108Phe
NM_004653.5:c.3494C>T MANE Select	NP_004644.2:p.Ser1165Phe
NM_001146705.2:c.3587C>T	NP_001140177.1:p.Ser1196Phe