Canonical Allele Identifier: CA414844645

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869923C>A (hg19) ; chrY:g.19708037C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708037C>A , CM000686.2:g.19708037C>A	GRCh38
NC_000024.9:g.21869923C>A , CM000686.1:g.21869923C>A	GRCh37
NC_000024.8:g.20329311C>A	NCBI36
NG_032920.1:g.41903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3296G>T MANE Select	ENSP00000322408.4:p.Ser1099Ile
ENST00000317961.8:c.3296G>T	ENSP00000322408.4:p.Ser1099Ile
ENST00000382806.6:c.3125G>T	ENSP00000372256.2:p.Ser1042Ile
ENST00000415360.1:c.212G>T	ENSP00000389433.1:p.Ser71Ile
ENST00000440077.5:c.3173G>T	ENSP00000398543.1:p.Ser1058Ile
ENST00000469599.6:n.1894G>T
ENST00000492117.1:n.3188G>T
ENST00000541639.5:c.3389G>T	ENSP00000444293.1:p.Ser1130Ile
NM_001146705.1:c.3389G>T	NP_001140177.1:p.Ser1130Ile
NM_001146706.1:c.3125G>T	NP_001140178.1:p.Ser1042Ile
NM_004653.4:c.3296G>T	NP_004644.2:p.Ser1099Ile
XM_005262560.1:c.3161G>T	XP_005262617.1:p.Ser1054Ile
XM_005262561.1:c.3065G>T	XP_005262618.1:p.Ser1022Ile
XM_011531468.1:c.3218G>T	XP_011529770.1:p.Ser1073Ile
XR_244571.2:n.3584G>T
XR_430568.2:n.3918G>T
XM_005262560.3:c.3161G>T	XP_005262617.1:p.Ser1054Ile
XM_005262561.3:c.3065G>T	XP_005262618.1:p.Ser1022Ile
XM_011531468.3:c.3218G>T	XP_011529770.1:p.Ser1073Ile
XM_024452495.1:c.1286G>T	XP_024308263.1:p.Ser429Ile
XM_024452496.1:c.1052G>T	XP_024308264.1:p.Ser351Ile
XR_001756009.2:n.4034G>T
XR_001756010.2:n.4034G>T
XR_001756011.2:n.3899G>T
XR_001756012.2:n.4047G>T
XR_001756013.2:n.3365G>T
XR_002958832.1:n.3466G>T
XR_002958834.1:n.3690G>T
XR_002958835.1:n.3573G>T
XR_002958836.1:n.4256G>T
XR_002958837.1:n.4063G>T
XR_244571.4:n.3583G>T
XR_430568.4:n.3917G>T
NM_001146706.2:c.3125G>T	NP_001140178.1:p.Ser1042Ile
NM_004653.5:c.3296G>T MANE Select	NP_004644.2:p.Ser1099Ile
NM_001146705.2:c.3389G>T	NP_001140177.1:p.Ser1130Ile