Canonical Allele Identifier: CA414840334

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868039C>A (hg19) ; chrY:g.19706153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706153C>A , CM000686.2:g.19706153C>A	GRCh38
NC_000024.9:g.21868039C>A , CM000686.1:g.21868039C>A	GRCh37
NC_000024.8:g.20327427C>A	NCBI36
NG_032920.1:g.43787G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4462G>T MANE Select	ENSP00000322408.4:p.Asp1488Tyr
ENST00000317961.8:c.4462G>T	ENSP00000322408.4:p.Asp1488Tyr
ENST00000382806.6:c.4291G>T	ENSP00000372256.2:p.Asp1431Tyr
ENST00000440077.5:c.4339G>T	ENSP00000398543.1:p.Asp1447Tyr
ENST00000469599.6:n.3213G>T
ENST00000492117.1:n.4507G>T
ENST00000541639.5:c.4555G>T	ENSP00000444293.1:p.Asp1519Tyr
NM_001146705.1:c.4555G>T	NP_001140177.1:p.Asp1519Tyr
NM_001146706.1:c.4291G>T	NP_001140178.1:p.Asp1431Tyr
NM_004653.4:c.4462G>T	NP_004644.2:p.Asp1488Tyr
XM_005262560.1:c.4327G>T	XP_005262617.1:p.Asp1443Tyr
XM_005262561.1:c.4231G>T	XP_005262618.1:p.Asp1411Tyr
XM_011531468.1:c.4384G>T	XP_011529770.1:p.Asp1462Tyr
XR_430568.2:n.5237G>T
XM_005262560.3:c.4327G>T	XP_005262617.1:p.Asp1443Tyr
XM_005262561.3:c.4231G>T	XP_005262618.1:p.Asp1411Tyr
XM_011531468.3:c.4384G>T	XP_011529770.1:p.Asp1462Tyr
XM_024452495.1:c.2452G>T	XP_024308263.1:p.Asp818Tyr
XM_024452496.1:c.2218G>T	XP_024308264.1:p.Asp740Tyr
XR_001756009.2:n.5200G>T
XR_001756010.2:n.5168G>T
XR_001756011.2:n.5065G>T
XR_001756012.2:n.5213G>T
XR_001756013.2:n.4531G>T
XR_002958832.1:n.4785G>T
XR_002958834.1:n.4856G>T
XR_002958835.1:n.4739G>T
XR_002958836.1:n.5390G>T
XR_002958837.1:n.5197G>T
XR_244571.4:n.4717G>T
XR_430568.4:n.5236G>T
NM_001146706.2:c.4291G>T	NP_001140178.1:p.Asp1431Tyr
NM_004653.5:c.4462G>T MANE Select	NP_004644.2:p.Asp1488Tyr
NM_001146705.2:c.4555G>T	NP_001140177.1:p.Asp1519Tyr