Canonical Allele Identifier: CA414840065

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867969A>T (hg19) ; chrY:g.19706083A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706083A>T , CM000686.2:g.19706083A>T	GRCh38
NC_000024.9:g.21867969A>T , CM000686.1:g.21867969A>T	GRCh37
NC_000024.8:g.20327357A>T	NCBI36
NG_032920.1:g.43857T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4532T>A MANE Select	ENSP00000322408.4:p.Leu1511Ter
ENST00000317961.8:c.4532T>A	ENSP00000322408.4:p.Leu1511Ter
ENST00000382806.6:c.4361T>A	ENSP00000372256.2:p.Leu1454Ter
ENST00000440077.5:c.4409T>A	ENSP00000398543.1:p.Leu1470Ter
ENST00000469599.6:n.3283T>A
ENST00000492117.1:n.4577T>A
ENST00000541639.5:c.4625T>A	ENSP00000444293.1:p.Leu1542Ter
NM_001146705.1:c.4625T>A	NP_001140177.1:p.Leu1542Ter
NM_001146706.1:c.4361T>A	NP_001140178.1:p.Leu1454Ter
NM_004653.4:c.4532T>A	NP_004644.2:p.Leu1511Ter
XM_005262560.1:c.4397T>A	XP_005262617.1:p.Leu1466Ter
XM_005262561.1:c.4301T>A	XP_005262618.1:p.Leu1434Ter
XM_011531468.1:c.4454T>A	XP_011529770.1:p.Leu1485Ter
XR_430568.2:n.5307T>A
XM_005262560.3:c.4397T>A	XP_005262617.1:p.Leu1466Ter
XM_005262561.3:c.4301T>A	XP_005262618.1:p.Leu1434Ter
XM_011531468.3:c.4454T>A	XP_011529770.1:p.Leu1485Ter
XM_024452495.1:c.2522T>A	XP_024308263.1:p.Leu841Ter
XM_024452496.1:c.2288T>A	XP_024308264.1:p.Leu763Ter
XR_001756009.2:n.5270T>A
XR_001756010.2:n.5238T>A
XR_001756011.2:n.5135T>A
XR_001756012.2:n.5283T>A
XR_001756013.2:n.4601T>A
XR_002958832.1:n.4855T>A
XR_002958834.1:n.4926T>A
XR_002958835.1:n.4809T>A
XR_002958836.1:n.5460T>A
XR_002958837.1:n.5267T>A
XR_244571.4:n.4787T>A
XR_430568.4:n.5306T>A
NM_001146706.2:c.4361T>A	NP_001140178.1:p.Leu1454Ter
NM_004653.5:c.4532T>A MANE Select	NP_004644.2:p.Leu1511Ter
NM_001146705.2:c.4625T>A	NP_001140177.1:p.Leu1542Ter