Canonical Allele Identifier: CA414844520

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869900C>A (hg19) ; chrY:g.19708014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708014C>A , CM000686.2:g.19708014C>A	GRCh38
NC_000024.9:g.21869900C>A , CM000686.1:g.21869900C>A	GRCh37
NC_000024.8:g.20329288C>A	NCBI36
NG_032920.1:g.41926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3319G>T MANE Select	ENSP00000322408.4:p.Glu1107Ter
ENST00000317961.8:c.3319G>T	ENSP00000322408.4:p.Glu1107Ter
ENST00000382806.6:c.3148G>T	ENSP00000372256.2:p.Glu1050Ter
ENST00000415360.1:c.235G>T	ENSP00000389433.1:p.Glu79Ter
ENST00000440077.5:c.3196G>T	ENSP00000398543.1:p.Glu1066Ter
ENST00000469599.6:n.1917G>T
ENST00000492117.1:n.3211G>T
ENST00000541639.5:c.3412G>T	ENSP00000444293.1:p.Glu1138Ter
NM_001146705.1:c.3412G>T	NP_001140177.1:p.Glu1138Ter
NM_001146706.1:c.3148G>T	NP_001140178.1:p.Glu1050Ter
NM_004653.4:c.3319G>T	NP_004644.2:p.Glu1107Ter
XM_005262560.1:c.3184G>T	XP_005262617.1:p.Glu1062Ter
XM_005262561.1:c.3088G>T	XP_005262618.1:p.Glu1030Ter
XM_011531468.1:c.3241G>T	XP_011529770.1:p.Glu1081Ter
XR_244571.2:n.3607G>T
XR_430568.2:n.3941G>T
XM_005262560.3:c.3184G>T	XP_005262617.1:p.Glu1062Ter
XM_005262561.3:c.3088G>T	XP_005262618.1:p.Glu1030Ter
XM_011531468.3:c.3241G>T	XP_011529770.1:p.Glu1081Ter
XM_024452495.1:c.1309G>T	XP_024308263.1:p.Glu437Ter
XM_024452496.1:c.1075G>T	XP_024308264.1:p.Glu359Ter
XR_001756009.2:n.4057G>T
XR_001756010.2:n.4057G>T
XR_001756011.2:n.3922G>T
XR_001756012.2:n.4070G>T
XR_001756013.2:n.3388G>T
XR_002958832.1:n.3489G>T
XR_002958834.1:n.3713G>T
XR_002958835.1:n.3596G>T
XR_002958836.1:n.4279G>T
XR_002958837.1:n.4086G>T
XR_244571.4:n.3606G>T
XR_430568.4:n.3940G>T
NM_001146706.2:c.3148G>T	NP_001140178.1:p.Glu1050Ter
NM_004653.5:c.3319G>T MANE Select	NP_004644.2:p.Glu1107Ter
NM_001146705.2:c.3412G>T	NP_001140177.1:p.Glu1138Ter