Canonical Allele Identifier: CA520160810

Gene: KDM5D

Linked Data

• dbSNP Id: rs1395356687
• gnomAD v2: Y-21869832-G-A
• MyVariant Identifiers: chrY:g.21869832G>A (hg19) ; chrY:g.19707946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707946G>A , CM000686.2:g.19707946G>A	GRCh38
NC_000024.9:g.21869832G>A , CM000686.1:g.21869832G>A	GRCh37
NC_000024.8:g.20329220G>A	NCBI36
NG_032920.1:g.41994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3387C>T MANE Select	ENSP00000322408.4:p.Asp1129=
ENST00000317961.8:c.3387C>T	ENSP00000322408.4:p.Asp1129=
ENST00000382806.6:c.3216C>T	ENSP00000372256.2:p.Asp1072=
ENST00000415360.1:c.303C>T	ENSP00000389433.1:p.Asp101=
ENST00000440077.5:c.3264C>T	ENSP00000398543.1:p.Asp1088=
ENST00000469599.6:n.1985C>T
ENST00000492117.1:n.3279C>T
ENST00000541639.5:c.3480C>T	ENSP00000444293.1:p.Asp1160=
NM_001146705.1:c.3480C>T	NP_001140177.1:p.Asp1160=
NM_001146706.1:c.3216C>T	NP_001140178.1:p.Asp1072=
NM_004653.4:c.3387C>T	NP_004644.2:p.Asp1129=
XM_005262560.1:c.3252C>T	XP_005262617.1:p.Asp1084=
XM_005262561.1:c.3156C>T	XP_005262618.1:p.Asp1052=
XM_011531468.1:c.3309C>T	XP_011529770.1:p.Asp1103=
XR_244571.2:n.3675C>T
XR_430568.2:n.4009C>T
XM_005262560.3:c.3252C>T	XP_005262617.1:p.Asp1084=
XM_005262561.3:c.3156C>T	XP_005262618.1:p.Asp1052=
XM_011531468.3:c.3309C>T	XP_011529770.1:p.Asp1103=
XM_024452495.1:c.1377C>T	XP_024308263.1:p.Asp459=
XM_024452496.1:c.1143C>T	XP_024308264.1:p.Asp381=
XR_001756009.2:n.4125C>T
XR_001756010.2:n.4125C>T
XR_001756011.2:n.3990C>T
XR_001756012.2:n.4138C>T
XR_001756013.2:n.3456C>T
XR_002958832.1:n.3557C>T
XR_002958834.1:n.3781C>T
XR_002958835.1:n.3664C>T
XR_002958836.1:n.4347C>T
XR_002958837.1:n.4154C>T
XR_244571.4:n.3674C>T
XR_430568.4:n.4008C>T
NM_001146706.2:c.3216C>T	NP_001140178.1:p.Asp1072=
NM_004653.5:c.3387C>T MANE Select	NP_004644.2:p.Asp1129=
NM_001146705.2:c.3480C>T	NP_001140177.1:p.Asp1160=