Canonical Allele Identifier: CA414840257

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868020A>G (hg19) ; chrY:g.19706134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706134A>G , CM000686.2:g.19706134A>G	GRCh38
NC_000024.9:g.21868020A>G , CM000686.1:g.21868020A>G	GRCh37
NC_000024.8:g.20327408A>G	NCBI36
NG_032920.1:g.43806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4481T>C MANE Select	ENSP00000322408.4:p.Leu1494Pro
ENST00000317961.8:c.4481T>C	ENSP00000322408.4:p.Leu1494Pro
ENST00000382806.6:c.4310T>C	ENSP00000372256.2:p.Leu1437Pro
ENST00000440077.5:c.4358T>C	ENSP00000398543.1:p.Leu1453Pro
ENST00000469599.6:n.3232T>C
ENST00000492117.1:n.4526T>C
ENST00000541639.5:c.4574T>C	ENSP00000444293.1:p.Leu1525Pro
NM_001146705.1:c.4574T>C	NP_001140177.1:p.Leu1525Pro
NM_001146706.1:c.4310T>C	NP_001140178.1:p.Leu1437Pro
NM_004653.4:c.4481T>C	NP_004644.2:p.Leu1494Pro
XM_005262560.1:c.4346T>C	XP_005262617.1:p.Leu1449Pro
XM_005262561.1:c.4250T>C	XP_005262618.1:p.Leu1417Pro
XM_011531468.1:c.4403T>C	XP_011529770.1:p.Leu1468Pro
XR_430568.2:n.5256T>C
XM_005262560.3:c.4346T>C	XP_005262617.1:p.Leu1449Pro
XM_005262561.3:c.4250T>C	XP_005262618.1:p.Leu1417Pro
XM_011531468.3:c.4403T>C	XP_011529770.1:p.Leu1468Pro
XM_024452495.1:c.2471T>C	XP_024308263.1:p.Leu824Pro
XM_024452496.1:c.2237T>C	XP_024308264.1:p.Leu746Pro
XR_001756009.2:n.5219T>C
XR_001756010.2:n.5187T>C
XR_001756011.2:n.5084T>C
XR_001756012.2:n.5232T>C
XR_001756013.2:n.4550T>C
XR_002958832.1:n.4804T>C
XR_002958834.1:n.4875T>C
XR_002958835.1:n.4758T>C
XR_002958836.1:n.5409T>C
XR_002958837.1:n.5216T>C
XR_244571.4:n.4736T>C
XR_430568.4:n.5255T>C
NM_001146706.2:c.4310T>C	NP_001140178.1:p.Leu1437Pro
NM_004653.5:c.4481T>C MANE Select	NP_004644.2:p.Leu1494Pro
NM_001146705.2:c.4574T>C	NP_001140177.1:p.Leu1525Pro