Canonical Allele Identifier: CA414843376

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869394C>A (hg19) ; chrY:g.19707508C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707508C>A , CM000686.2:g.19707508C>A	GRCh38
NC_000024.9:g.21869394C>A , CM000686.1:g.21869394C>A	GRCh37
NC_000024.8:g.20328782C>A	NCBI36
NG_032920.1:g.42432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3638G>T MANE Select	ENSP00000322408.4:p.Ser1213Ile
ENST00000317961.8:c.3638G>T	ENSP00000322408.4:p.Ser1213Ile
ENST00000382806.6:c.3467G>T	ENSP00000372256.2:p.Ser1156Ile
ENST00000415360.1:c.554G>T	ENSP00000389433.1:p.Ser185Ile
ENST00000440077.5:c.3515G>T	ENSP00000398543.1:p.Ser1172Ile
ENST00000469599.6:n.2236G>T
ENST00000492117.1:n.3530G>T
ENST00000541639.5:c.3731G>T	ENSP00000444293.1:p.Ser1244Ile
NM_001146705.1:c.3731G>T	NP_001140177.1:p.Ser1244Ile
NM_001146706.1:c.3467G>T	NP_001140178.1:p.Ser1156Ile
NM_004653.4:c.3638G>T	NP_004644.2:p.Ser1213Ile
XM_005262560.1:c.3503G>T	XP_005262617.1:p.Ser1168Ile
XM_005262561.1:c.3407G>T	XP_005262618.1:p.Ser1136Ile
XM_011531468.1:c.3560G>T	XP_011529770.1:p.Ser1187Ile
XR_244571.2:n.3926G>T
XR_430568.2:n.4260G>T
XM_005262560.3:c.3503G>T	XP_005262617.1:p.Ser1168Ile
XM_005262561.3:c.3407G>T	XP_005262618.1:p.Ser1136Ile
XM_011531468.3:c.3560G>T	XP_011529770.1:p.Ser1187Ile
XM_024452495.1:c.1628G>T	XP_024308263.1:p.Ser543Ile
XM_024452496.1:c.1394G>T	XP_024308264.1:p.Ser465Ile
XR_001756009.2:n.4376G>T
XR_001756010.2:n.4376G>T
XR_001756011.2:n.4241G>T
XR_001756012.2:n.4389G>T
XR_001756013.2:n.3707G>T
XR_002958832.1:n.3808G>T
XR_002958834.1:n.4032G>T
XR_002958835.1:n.3915G>T
XR_002958836.1:n.4598G>T
XR_002958837.1:n.4405G>T
XR_244571.4:n.3925G>T
XR_430568.4:n.4259G>T
NM_001146706.2:c.3467G>T	NP_001140178.1:p.Ser1156Ile
NM_004653.5:c.3638G>T MANE Select	NP_004644.2:p.Ser1213Ile
NM_001146705.2:c.3731G>T	NP_001140177.1:p.Ser1244Ile