Canonical Allele Identifier: CA414840069

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867970A>T (hg19) ; chrY:g.19706084A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706084A>T , CM000686.2:g.19706084A>T	GRCh38
NC_000024.9:g.21867970A>T , CM000686.1:g.21867970A>T	GRCh37
NC_000024.8:g.20327358A>T	NCBI36
NG_032920.1:g.43856T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4531T>A MANE Select	ENSP00000322408.4:p.Leu1511Ile
ENST00000317961.8:c.4531T>A	ENSP00000322408.4:p.Leu1511Ile
ENST00000382806.6:c.4360T>A	ENSP00000372256.2:p.Leu1454Ile
ENST00000440077.5:c.4408T>A	ENSP00000398543.1:p.Leu1470Ile
ENST00000469599.6:n.3282T>A
ENST00000492117.1:n.4576T>A
ENST00000541639.5:c.4624T>A	ENSP00000444293.1:p.Leu1542Ile
NM_001146705.1:c.4624T>A	NP_001140177.1:p.Leu1542Ile
NM_001146706.1:c.4360T>A	NP_001140178.1:p.Leu1454Ile
NM_004653.4:c.4531T>A	NP_004644.2:p.Leu1511Ile
XM_005262560.1:c.4396T>A	XP_005262617.1:p.Leu1466Ile
XM_005262561.1:c.4300T>A	XP_005262618.1:p.Leu1434Ile
XM_011531468.1:c.4453T>A	XP_011529770.1:p.Leu1485Ile
XR_430568.2:n.5306T>A
XM_005262560.3:c.4396T>A	XP_005262617.1:p.Leu1466Ile
XM_005262561.3:c.4300T>A	XP_005262618.1:p.Leu1434Ile
XM_011531468.3:c.4453T>A	XP_011529770.1:p.Leu1485Ile
XM_024452495.1:c.2521T>A	XP_024308263.1:p.Leu841Ile
XM_024452496.1:c.2287T>A	XP_024308264.1:p.Leu763Ile
XR_001756009.2:n.5269T>A
XR_001756010.2:n.5237T>A
XR_001756011.2:n.5134T>A
XR_001756012.2:n.5282T>A
XR_001756013.2:n.4600T>A
XR_002958832.1:n.4854T>A
XR_002958834.1:n.4925T>A
XR_002958835.1:n.4808T>A
XR_002958836.1:n.5459T>A
XR_002958837.1:n.5266T>A
XR_244571.4:n.4786T>A
XR_430568.4:n.5305T>A
NM_001146706.2:c.4360T>A	NP_001140178.1:p.Leu1454Ile
NM_004653.5:c.4531T>A MANE Select	NP_004644.2:p.Leu1511Ile
NM_001146705.2:c.4624T>A	NP_001140177.1:p.Leu1542Ile