Canonical Allele Identifier: CA414843321

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869376A>C (hg19) ; chrY:g.19707490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707490A>C , CM000686.2:g.19707490A>C	GRCh38
NC_000024.9:g.21869376A>C , CM000686.1:g.21869376A>C	GRCh37
NC_000024.8:g.20328764A>C	NCBI36
NG_032920.1:g.42450T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3656T>G MANE Select	ENSP00000322408.4:p.Leu1219Arg
ENST00000317961.8:c.3656T>G	ENSP00000322408.4:p.Leu1219Arg
ENST00000382806.6:c.3485T>G	ENSP00000372256.2:p.Leu1162Arg
ENST00000415360.1:c.572T>G	ENSP00000389433.1:p.Leu191Arg
ENST00000440077.5:c.3533T>G	ENSP00000398543.1:p.Leu1178Arg
ENST00000469599.6:n.2254T>G
ENST00000492117.1:n.3548T>G
ENST00000541639.5:c.3749T>G	ENSP00000444293.1:p.Leu1250Arg
NM_001146705.1:c.3749T>G	NP_001140177.1:p.Leu1250Arg
NM_001146706.1:c.3485T>G	NP_001140178.1:p.Leu1162Arg
NM_004653.4:c.3656T>G	NP_004644.2:p.Leu1219Arg
XM_005262560.1:c.3521T>G	XP_005262617.1:p.Leu1174Arg
XM_005262561.1:c.3425T>G	XP_005262618.1:p.Leu1142Arg
XM_011531468.1:c.3578T>G	XP_011529770.1:p.Leu1193Arg
XR_244571.2:n.3944T>G
XR_430568.2:n.4278T>G
XM_005262560.3:c.3521T>G	XP_005262617.1:p.Leu1174Arg
XM_005262561.3:c.3425T>G	XP_005262618.1:p.Leu1142Arg
XM_011531468.3:c.3578T>G	XP_011529770.1:p.Leu1193Arg
XM_024452495.1:c.1646T>G	XP_024308263.1:p.Leu549Arg
XM_024452496.1:c.1412T>G	XP_024308264.1:p.Leu471Arg
XR_001756009.2:n.4394T>G
XR_001756010.2:n.4394T>G
XR_001756011.2:n.4259T>G
XR_001756012.2:n.4407T>G
XR_001756013.2:n.3725T>G
XR_002958832.1:n.3826T>G
XR_002958834.1:n.4050T>G
XR_002958835.1:n.3933T>G
XR_002958836.1:n.4616T>G
XR_002958837.1:n.4423T>G
XR_244571.4:n.3943T>G
XR_430568.4:n.4277T>G
NM_001146706.2:c.3485T>G	NP_001140178.1:p.Leu1162Arg
NM_004653.5:c.3656T>G MANE Select	NP_004644.2:p.Leu1219Arg
NM_001146705.2:c.3749T>G	NP_001140177.1:p.Leu1250Arg