Canonical Allele Identifier: CA414840380

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868050T>A (hg19) ; chrY:g.19706164T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706164T>A , CM000686.2:g.19706164T>A	GRCh38
NC_000024.9:g.21868050T>A , CM000686.1:g.21868050T>A	GRCh37
NC_000024.8:g.20327438T>A	NCBI36
NG_032920.1:g.43776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4451A>T MANE Select	ENSP00000322408.4:p.Gln1484Leu
ENST00000317961.8:c.4451A>T	ENSP00000322408.4:p.Gln1484Leu
ENST00000382806.6:c.4280A>T	ENSP00000372256.2:p.Gln1427Leu
ENST00000440077.5:c.4328A>T	ENSP00000398543.1:p.Gln1443Leu
ENST00000469599.6:n.3202A>T
ENST00000492117.1:n.4496A>T
ENST00000541639.5:c.4544A>T	ENSP00000444293.1:p.Gln1515Leu
NM_001146705.1:c.4544A>T	NP_001140177.1:p.Gln1515Leu
NM_001146706.1:c.4280A>T	NP_001140178.1:p.Gln1427Leu
NM_004653.4:c.4451A>T	NP_004644.2:p.Gln1484Leu
XM_005262560.1:c.4316A>T	XP_005262617.1:p.Gln1439Leu
XM_005262561.1:c.4220A>T	XP_005262618.1:p.Gln1407Leu
XM_011531468.1:c.4373A>T	XP_011529770.1:p.Gln1458Leu
XR_430568.2:n.5226A>T
XM_005262560.3:c.4316A>T	XP_005262617.1:p.Gln1439Leu
XM_005262561.3:c.4220A>T	XP_005262618.1:p.Gln1407Leu
XM_011531468.3:c.4373A>T	XP_011529770.1:p.Gln1458Leu
XM_024452495.1:c.2441A>T	XP_024308263.1:p.Gln814Leu
XM_024452496.1:c.2207A>T	XP_024308264.1:p.Gln736Leu
XR_001756009.2:n.5189A>T
XR_001756010.2:n.5157A>T
XR_001756011.2:n.5054A>T
XR_001756012.2:n.5202A>T
XR_001756013.2:n.4520A>T
XR_002958832.1:n.4774A>T
XR_002958834.1:n.4845A>T
XR_002958835.1:n.4728A>T
XR_002958836.1:n.5379A>T
XR_002958837.1:n.5186A>T
XR_244571.4:n.4706A>T
XR_430568.4:n.5225A>T
NM_001146706.2:c.4280A>T	NP_001140178.1:p.Gln1427Leu
NM_004653.5:c.4451A>T MANE Select	NP_004644.2:p.Gln1484Leu
NM_001146705.2:c.4544A>T	NP_001140177.1:p.Gln1515Leu