Canonical Allele Identifier: CA10574762

Gene: KDM5D

Linked Data

• dbSNP Id: rs748757185
• ExAC: Y:21869892 C / A
• gnomAD v2: Y-21869892-C-A
• MyVariant Identifiers: chrY:g.21869892C>A (hg19) ; chrY:g.19708006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708006C>A , CM000686.2:g.19708006C>A	GRCh38
NC_000024.9:g.21869892C>A , CM000686.1:g.21869892C>A	GRCh37
NC_000024.8:g.20329280C>A	NCBI36
NG_032920.1:g.41934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3327G>T MANE Select	ENSP00000322408.4:p.Ala1109=
ENST00000317961.8:c.3327G>T	ENSP00000322408.4:p.Ala1109=
ENST00000382806.6:c.3156G>T	ENSP00000372256.2:p.Ala1052=
ENST00000415360.1:c.243G>T	ENSP00000389433.1:p.Ala81=
ENST00000440077.5:c.3204G>T	ENSP00000398543.1:p.Ala1068=
ENST00000469599.6:n.1925G>T
ENST00000492117.1:n.3219G>T
ENST00000541639.5:c.3420G>T	ENSP00000444293.1:p.Ala1140=
NM_001146705.1:c.3420G>T	NP_001140177.1:p.Ala1140=
NM_001146706.1:c.3156G>T	NP_001140178.1:p.Ala1052=
NM_004653.4:c.3327G>T	NP_004644.2:p.Ala1109=
XM_005262560.1:c.3192G>T	XP_005262617.1:p.Ala1064=
XM_005262561.1:c.3096G>T	XP_005262618.1:p.Ala1032=
XM_011531468.1:c.3249G>T	XP_011529770.1:p.Ala1083=
XR_244571.2:n.3615G>T
XR_430568.2:n.3949G>T
XM_005262560.3:c.3192G>T	XP_005262617.1:p.Ala1064=
XM_005262561.3:c.3096G>T	XP_005262618.1:p.Ala1032=
XM_011531468.3:c.3249G>T	XP_011529770.1:p.Ala1083=
XM_024452495.1:c.1317G>T	XP_024308263.1:p.Ala439=
XM_024452496.1:c.1083G>T	XP_024308264.1:p.Ala361=
XR_001756009.2:n.4065G>T
XR_001756010.2:n.4065G>T
XR_001756011.2:n.3930G>T
XR_001756012.2:n.4078G>T
XR_001756013.2:n.3396G>T
XR_002958832.1:n.3497G>T
XR_002958834.1:n.3721G>T
XR_002958835.1:n.3604G>T
XR_002958836.1:n.4287G>T
XR_002958837.1:n.4094G>T
XR_244571.4:n.3614G>T
XR_430568.4:n.3948G>T
NM_001146706.2:c.3156G>T	NP_001140178.1:p.Ala1052=
NM_004653.5:c.3327G>T MANE Select	NP_004644.2:p.Ala1109=
NM_001146705.2:c.3420G>T	NP_001140177.1:p.Ala1140=