Canonical Allele Identifier: CA414844672

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869929G>A (hg19) ; chrY:g.19708043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708043G>A , CM000686.2:g.19708043G>A	GRCh38
NC_000024.9:g.21869929G>A , CM000686.1:g.21869929G>A	GRCh37
NC_000024.8:g.20329317G>A	NCBI36
NG_032920.1:g.41897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3290C>T MANE Select	ENSP00000322408.4:p.Ser1097Leu
ENST00000317961.8:c.3290C>T	ENSP00000322408.4:p.Ser1097Leu
ENST00000382806.6:c.3119C>T	ENSP00000372256.2:p.Ser1040Leu
ENST00000415360.1:c.206C>T	ENSP00000389433.1:p.Ser69Leu
ENST00000440077.5:c.3167C>T	ENSP00000398543.1:p.Ser1056Leu
ENST00000469599.6:n.1888C>T
ENST00000492117.1:n.3182C>T
ENST00000541639.5:c.3383C>T	ENSP00000444293.1:p.Ser1128Leu
NM_001146705.1:c.3383C>T	NP_001140177.1:p.Ser1128Leu
NM_001146706.1:c.3119C>T	NP_001140178.1:p.Ser1040Leu
NM_004653.4:c.3290C>T	NP_004644.2:p.Ser1097Leu
XM_005262560.1:c.3155C>T	XP_005262617.1:p.Ser1052Leu
XM_005262561.1:c.3059C>T	XP_005262618.1:p.Ser1020Leu
XM_011531468.1:c.3212C>T	XP_011529770.1:p.Ser1071Leu
XR_244571.2:n.3578C>T
XR_430568.2:n.3912C>T
XM_005262560.3:c.3155C>T	XP_005262617.1:p.Ser1052Leu
XM_005262561.3:c.3059C>T	XP_005262618.1:p.Ser1020Leu
XM_011531468.3:c.3212C>T	XP_011529770.1:p.Ser1071Leu
XM_024452495.1:c.1280C>T	XP_024308263.1:p.Ser427Leu
XM_024452496.1:c.1046C>T	XP_024308264.1:p.Ser349Leu
XR_001756009.2:n.4028C>T
XR_001756010.2:n.4028C>T
XR_001756011.2:n.3893C>T
XR_001756012.2:n.4041C>T
XR_001756013.2:n.3359C>T
XR_002958832.1:n.3460C>T
XR_002958834.1:n.3684C>T
XR_002958835.1:n.3567C>T
XR_002958836.1:n.4250C>T
XR_002958837.1:n.4057C>T
XR_244571.4:n.3577C>T
XR_430568.4:n.3911C>T
NM_001146706.2:c.3119C>T	NP_001140178.1:p.Ser1040Leu
NM_004653.5:c.3290C>T MANE Select	NP_004644.2:p.Ser1097Leu
NM_001146705.2:c.3383C>T	NP_001140177.1:p.Ser1128Leu