Canonical Allele Identifier: CA414840013

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867959C>A (hg19) ; chrY:g.19706073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706073C>A , CM000686.2:g.19706073C>A	GRCh38
NC_000024.9:g.21867959C>A , CM000686.1:g.21867959C>A	GRCh37
NC_000024.8:g.20327347C>A	NCBI36
NG_032920.1:g.43867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4542G>T MANE Select	ENSP00000322408.4:p.Lys1514Asn
ENST00000317961.8:c.4542G>T	ENSP00000322408.4:p.Lys1514Asn
ENST00000382806.6:c.4371G>T	ENSP00000372256.2:p.Lys1457Asn
ENST00000440077.5:c.4419G>T	ENSP00000398543.1:p.Lys1473Asn
ENST00000469599.6:n.3293G>T
ENST00000492117.1:n.4587G>T
ENST00000541639.5:c.4635G>T	ENSP00000444293.1:p.Lys1545Asn
NM_001146705.1:c.4635G>T	NP_001140177.1:p.Lys1545Asn
NM_001146706.1:c.4371G>T	NP_001140178.1:p.Lys1457Asn
NM_004653.4:c.4542G>T	NP_004644.2:p.Lys1514Asn
XM_005262560.1:c.4407G>T	XP_005262617.1:p.Lys1469Asn
XM_005262561.1:c.4311G>T	XP_005262618.1:p.Lys1437Asn
XM_011531468.1:c.4464G>T	XP_011529770.1:p.Lys1488Asn
XR_430568.2:n.5317G>T
XM_005262560.3:c.4407G>T	XP_005262617.1:p.Lys1469Asn
XM_005262561.3:c.4311G>T	XP_005262618.1:p.Lys1437Asn
XM_011531468.3:c.4464G>T	XP_011529770.1:p.Lys1488Asn
XM_024452495.1:c.2532G>T	XP_024308263.1:p.Lys844Asn
XM_024452496.1:c.2298G>T	XP_024308264.1:p.Lys766Asn
XR_001756009.2:n.5280G>T
XR_001756010.2:n.5248G>T
XR_001756011.2:n.5145G>T
XR_001756012.2:n.5293G>T
XR_001756013.2:n.4611G>T
XR_002958832.1:n.4865G>T
XR_002958834.1:n.4936G>T
XR_002958835.1:n.4819G>T
XR_002958836.1:n.5470G>T
XR_002958837.1:n.5277G>T
XR_244571.4:n.4797G>T
XR_430568.4:n.5316G>T
NM_001146706.2:c.4371G>T	NP_001140178.1:p.Lys1457Asn
NM_004653.5:c.4542G>T MANE Select	NP_004644.2:p.Lys1514Asn
NM_001146705.2:c.4635G>T	NP_001140177.1:p.Lys1545Asn