Canonical Allele Identifier: CA520516514

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869377G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707491G>A , CM000686.2:g.19707491G>A	GRCh38
NC_000024.9:g.21869377G>A , CM000686.1:g.21869377G>A	GRCh37
NC_000024.8:g.20328765G>A	NCBI36
NG_032920.1:g.42449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3655C>T MANE Select	ENSP00000322408.4:p.Leu1219=
ENST00000317961.8:c.3655C>T	ENSP00000322408.4:p.Leu1219=
ENST00000382806.6:c.3484C>T	ENSP00000372256.2:p.Leu1162=
ENST00000415360.1:c.571C>T	ENSP00000389433.1:p.Leu191=
ENST00000440077.5:c.3532C>T	ENSP00000398543.1:p.Leu1178=
ENST00000469599.6:n.2253C>T
ENST00000492117.1:n.3547C>T
ENST00000541639.5:c.3748C>T	ENSP00000444293.1:p.Leu1250=
NM_001146705.1:c.3748C>T	NP_001140177.1:p.Leu1250=
NM_001146706.1:c.3484C>T	NP_001140178.1:p.Leu1162=
NM_004653.4:c.3655C>T	NP_004644.2:p.Leu1219=
XM_005262560.1:c.3520C>T	XP_005262617.1:p.Leu1174=
XM_005262561.1:c.3424C>T	XP_005262618.1:p.Leu1142=
XM_011531468.1:c.3577C>T	XP_011529770.1:p.Leu1193=
XR_244571.2:n.3943C>T
XR_430568.2:n.4277C>T
XM_005262560.3:c.3520C>T	XP_005262617.1:p.Leu1174=
XM_005262561.3:c.3424C>T	XP_005262618.1:p.Leu1142=
XM_011531468.3:c.3577C>T	XP_011529770.1:p.Leu1193=
XM_024452495.1:c.1645C>T	XP_024308263.1:p.Leu549=
XM_024452496.1:c.1411C>T	XP_024308264.1:p.Leu471=
XR_001756009.2:n.4393C>T
XR_001756010.2:n.4393C>T
XR_001756011.2:n.4258C>T
XR_001756012.2:n.4406C>T
XR_001756013.2:n.3724C>T
XR_002958832.1:n.3825C>T
XR_002958834.1:n.4049C>T
XR_002958835.1:n.3932C>T
XR_002958836.1:n.4615C>T
XR_002958837.1:n.4422C>T
XR_244571.4:n.3942C>T
XR_430568.4:n.4276C>T
NM_001146706.2:c.3484C>T	NP_001140178.1:p.Leu1162=
NM_004653.5:c.3655C>T MANE Select	NP_004644.2:p.Leu1219=
NM_001146705.2:c.3748C>T	NP_001140177.1:p.Leu1250=