Canonical Allele Identifier: CA414839889

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867925T>A (hg19) ; chrY:g.19706039T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706039T>A , CM000686.2:g.19706039T>A	GRCh38
NC_000024.9:g.21867925T>A , CM000686.1:g.21867925T>A	GRCh37
NC_000024.8:g.20327313T>A	NCBI36
NG_032920.1:g.43901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4576A>T MANE Select	ENSP00000322408.4:p.Met1526Leu
ENST00000317961.8:c.4576A>T	ENSP00000322408.4:p.Met1526Leu
ENST00000382806.6:c.4405A>T	ENSP00000372256.2:p.Met1469Leu
ENST00000469599.6:n.3327A>T
ENST00000492117.1:n.4621A>T
ENST00000541639.5:c.4669A>T	ENSP00000444293.1:p.Met1557Leu
NM_001146705.1:c.4669A>T	NP_001140177.1:p.Met1557Leu
NM_001146706.1:c.4405A>T	NP_001140178.1:p.Met1469Leu
NM_004653.4:c.4576A>T	NP_004644.2:p.Met1526Leu
XM_005262560.1:c.4441A>T	XP_005262617.1:p.Met1481Leu
XM_005262561.1:c.4345A>T	XP_005262618.1:p.Met1449Leu
XM_011531468.1:c.4498A>T	XP_011529770.1:p.Met1500Leu
XR_430568.2:n.5351A>T
XM_005262560.3:c.4441A>T	XP_005262617.1:p.Met1481Leu
XM_005262561.3:c.4345A>T	XP_005262618.1:p.Met1449Leu
XM_011531468.3:c.4498A>T	XP_011529770.1:p.Met1500Leu
XM_024452495.1:c.2566A>T	XP_024308263.1:p.Met856Leu
XM_024452496.1:c.2332A>T	XP_024308264.1:p.Met778Leu
XR_001756009.2:n.5314A>T
XR_001756010.2:n.5282A>T
XR_001756011.2:n.5179A>T
XR_001756012.2:n.5327A>T
XR_001756013.2:n.4645A>T
XR_002958832.1:n.4899A>T
XR_002958834.1:n.4970A>T
XR_002958835.1:n.4853A>T
XR_002958836.1:n.5504A>T
XR_002958837.1:n.5311A>T
XR_244571.4:n.4831A>T
XR_430568.4:n.5350A>T
NM_001146706.2:c.4405A>T	NP_001140178.1:p.Met1469Leu
NM_004653.5:c.4576A>T MANE Select	NP_004644.2:p.Met1526Leu
NM_001146705.2:c.4669A>T	NP_001140177.1:p.Met1557Leu