Canonical Allele Identifier: CA414843349

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869385G>A (hg19) ; chrY:g.19707499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707499G>A , CM000686.2:g.19707499G>A	GRCh38
NC_000024.9:g.21869385G>A , CM000686.1:g.21869385G>A	GRCh37
NC_000024.8:g.20328773G>A	NCBI36
NG_032920.1:g.42441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3647C>T MANE Select	ENSP00000322408.4:p.Ser1216Leu
ENST00000317961.8:c.3647C>T	ENSP00000322408.4:p.Ser1216Leu
ENST00000382806.6:c.3476C>T	ENSP00000372256.2:p.Ser1159Leu
ENST00000415360.1:c.563C>T	ENSP00000389433.1:p.Ser188Leu
ENST00000440077.5:c.3524C>T	ENSP00000398543.1:p.Ser1175Leu
ENST00000469599.6:n.2245C>T
ENST00000492117.1:n.3539C>T
ENST00000541639.5:c.3740C>T	ENSP00000444293.1:p.Ser1247Leu
NM_001146705.1:c.3740C>T	NP_001140177.1:p.Ser1247Leu
NM_001146706.1:c.3476C>T	NP_001140178.1:p.Ser1159Leu
NM_004653.4:c.3647C>T	NP_004644.2:p.Ser1216Leu
XM_005262560.1:c.3512C>T	XP_005262617.1:p.Ser1171Leu
XM_005262561.1:c.3416C>T	XP_005262618.1:p.Ser1139Leu
XM_011531468.1:c.3569C>T	XP_011529770.1:p.Ser1190Leu
XR_244571.2:n.3935C>T
XR_430568.2:n.4269C>T
XM_005262560.3:c.3512C>T	XP_005262617.1:p.Ser1171Leu
XM_005262561.3:c.3416C>T	XP_005262618.1:p.Ser1139Leu
XM_011531468.3:c.3569C>T	XP_011529770.1:p.Ser1190Leu
XM_024452495.1:c.1637C>T	XP_024308263.1:p.Ser546Leu
XM_024452496.1:c.1403C>T	XP_024308264.1:p.Ser468Leu
XR_001756009.2:n.4385C>T
XR_001756010.2:n.4385C>T
XR_001756011.2:n.4250C>T
XR_001756012.2:n.4398C>T
XR_001756013.2:n.3716C>T
XR_002958832.1:n.3817C>T
XR_002958834.1:n.4041C>T
XR_002958835.1:n.3924C>T
XR_002958836.1:n.4607C>T
XR_002958837.1:n.4414C>T
XR_244571.4:n.3934C>T
XR_430568.4:n.4268C>T
NM_001146706.2:c.3476C>T	NP_001140178.1:p.Ser1159Leu
NM_004653.5:c.3647C>T MANE Select	NP_004644.2:p.Ser1216Leu
NM_001146705.2:c.3740C>T	NP_001140177.1:p.Ser1247Leu