Canonical Allele Identifier: CA414841899

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868694G>A (hg19) ; chrY:g.19706808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706808G>A , CM000686.2:g.19706808G>A	GRCh38
NC_000024.9:g.21868694G>A , CM000686.1:g.21868694G>A	GRCh37
NC_000024.8:g.20328082G>A	NCBI36
NG_032920.1:g.43132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4055C>T MANE Select	ENSP00000322408.4:p.Pro1352Leu
ENST00000317961.8:c.4055C>T	ENSP00000322408.4:p.Pro1352Leu
ENST00000382806.6:c.3884C>T	ENSP00000372256.2:p.Pro1295Leu
ENST00000440077.5:c.3932C>T	ENSP00000398543.1:p.Pro1311Leu
ENST00000469599.6:n.2653C>T
ENST00000492117.1:n.3947C>T
ENST00000541639.5:c.4148C>T	ENSP00000444293.1:p.Pro1383Leu
NM_001146705.1:c.4148C>T	NP_001140177.1:p.Pro1383Leu
NM_001146706.1:c.3884C>T	NP_001140178.1:p.Pro1295Leu
NM_004653.4:c.4055C>T	NP_004644.2:p.Pro1352Leu
XM_005262560.1:c.3920C>T	XP_005262617.1:p.Pro1307Leu
XM_005262561.1:c.3824C>T	XP_005262618.1:p.Pro1275Leu
XM_011531468.1:c.3977C>T	XP_011529770.1:p.Pro1326Leu
XR_244571.2:n.4343C>T
XR_430568.2:n.4677C>T
XM_005262560.3:c.3920C>T	XP_005262617.1:p.Pro1307Leu
XM_005262561.3:c.3824C>T	XP_005262618.1:p.Pro1275Leu
XM_011531468.3:c.3977C>T	XP_011529770.1:p.Pro1326Leu
XM_024452495.1:c.2045C>T	XP_024308263.1:p.Pro682Leu
XM_024452496.1:c.1811C>T	XP_024308264.1:p.Pro604Leu
XR_001756009.2:n.4793C>T
XR_001756010.2:n.4793C>T
XR_001756011.2:n.4658C>T
XR_001756012.2:n.4806C>T
XR_001756013.2:n.4124C>T
XR_002958832.1:n.4225C>T
XR_002958834.1:n.4449C>T
XR_002958835.1:n.4332C>T
XR_002958836.1:n.5015C>T
XR_002958837.1:n.4822C>T
XR_244571.4:n.4342C>T
XR_430568.4:n.4676C>T
NM_001146706.2:c.3884C>T	NP_001140178.1:p.Pro1295Leu
NM_004653.5:c.4055C>T MANE Select	NP_004644.2:p.Pro1352Leu
NM_001146705.2:c.4148C>T	NP_001140177.1:p.Pro1383Leu