Canonical Allele Identifier: CA414843874

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869526G>A (hg19) ; chrY:g.19707640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707640G>A , CM000686.2:g.19707640G>A	GRCh38
NC_000024.9:g.21869526G>A , CM000686.1:g.21869526G>A	GRCh37
NC_000024.8:g.20328914G>A	NCBI36
NG_032920.1:g.42300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3506C>T MANE Select	ENSP00000322408.4:p.Ser1169Phe
ENST00000317961.8:c.3506C>T	ENSP00000322408.4:p.Ser1169Phe
ENST00000382806.6:c.3335C>T	ENSP00000372256.2:p.Ser1112Phe
ENST00000415360.1:c.422C>T	ENSP00000389433.1:p.Ser141Phe
ENST00000440077.5:c.3383C>T	ENSP00000398543.1:p.Ser1128Phe
ENST00000469599.6:n.2104C>T
ENST00000492117.1:n.3398C>T
ENST00000541639.5:c.3599C>T	ENSP00000444293.1:p.Ser1200Phe
NM_001146705.1:c.3599C>T	NP_001140177.1:p.Ser1200Phe
NM_001146706.1:c.3335C>T	NP_001140178.1:p.Ser1112Phe
NM_004653.4:c.3506C>T	NP_004644.2:p.Ser1169Phe
XM_005262560.1:c.3371C>T	XP_005262617.1:p.Ser1124Phe
XM_005262561.1:c.3275C>T	XP_005262618.1:p.Ser1092Phe
XM_011531468.1:c.3428C>T	XP_011529770.1:p.Ser1143Phe
XR_244571.2:n.3794C>T
XR_430568.2:n.4128C>T
XM_005262560.3:c.3371C>T	XP_005262617.1:p.Ser1124Phe
XM_005262561.3:c.3275C>T	XP_005262618.1:p.Ser1092Phe
XM_011531468.3:c.3428C>T	XP_011529770.1:p.Ser1143Phe
XM_024452495.1:c.1496C>T	XP_024308263.1:p.Ser499Phe
XM_024452496.1:c.1262C>T	XP_024308264.1:p.Ser421Phe
XR_001756009.2:n.4244C>T
XR_001756010.2:n.4244C>T
XR_001756011.2:n.4109C>T
XR_001756012.2:n.4257C>T
XR_001756013.2:n.3575C>T
XR_002958832.1:n.3676C>T
XR_002958834.1:n.3900C>T
XR_002958835.1:n.3783C>T
XR_002958836.1:n.4466C>T
XR_002958837.1:n.4273C>T
XR_244571.4:n.3793C>T
XR_430568.4:n.4127C>T
NM_001146706.2:c.3335C>T	NP_001140178.1:p.Ser1112Phe
NM_004653.5:c.3506C>T MANE Select	NP_004644.2:p.Ser1169Phe
NM_001146705.2:c.3599C>T	NP_001140177.1:p.Ser1200Phe