Canonical Allele Identifier: CA10574766

Gene: KDM5D

Linked Data

• dbSNP Id: rs767311402
• ExAC: Y:21869922 G / A
• gnomAD v2: Y-21869922-G-A
• MyVariant Identifiers: chrY:g.21869922G>A (hg19) ; chrY:g.19708036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708036G>A , CM000686.2:g.19708036G>A	GRCh38
NC_000024.9:g.21869922G>A , CM000686.1:g.21869922G>A	GRCh37
NC_000024.8:g.20329310G>A	NCBI36
NG_032920.1:g.41904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3297C>T MANE Select	ENSP00000322408.4:p.Ser1099=
ENST00000317961.8:c.3297C>T	ENSP00000322408.4:p.Ser1099=
ENST00000382806.6:c.3126C>T	ENSP00000372256.2:p.Ser1042=
ENST00000415360.1:c.213C>T	ENSP00000389433.1:p.Ser71=
ENST00000440077.5:c.3174C>T	ENSP00000398543.1:p.Ser1058=
ENST00000469599.6:n.1895C>T
ENST00000492117.1:n.3189C>T
ENST00000541639.5:c.3390C>T	ENSP00000444293.1:p.Ser1130=
NM_001146705.1:c.3390C>T	NP_001140177.1:p.Ser1130=
NM_001146706.1:c.3126C>T	NP_001140178.1:p.Ser1042=
NM_004653.4:c.3297C>T	NP_004644.2:p.Ser1099=
XM_005262560.1:c.3162C>T	XP_005262617.1:p.Ser1054=
XM_005262561.1:c.3066C>T	XP_005262618.1:p.Ser1022=
XM_011531468.1:c.3219C>T	XP_011529770.1:p.Ser1073=
XR_244571.2:n.3585C>T
XR_430568.2:n.3919C>T
XM_005262560.3:c.3162C>T	XP_005262617.1:p.Ser1054=
XM_005262561.3:c.3066C>T	XP_005262618.1:p.Ser1022=
XM_011531468.3:c.3219C>T	XP_011529770.1:p.Ser1073=
XM_024452495.1:c.1287C>T	XP_024308263.1:p.Ser429=
XM_024452496.1:c.1053C>T	XP_024308264.1:p.Ser351=
XR_001756009.2:n.4035C>T
XR_001756010.2:n.4035C>T
XR_001756011.2:n.3900C>T
XR_001756012.2:n.4048C>T
XR_001756013.2:n.3366C>T
XR_002958832.1:n.3467C>T
XR_002958834.1:n.3691C>T
XR_002958835.1:n.3574C>T
XR_002958836.1:n.4257C>T
XR_002958837.1:n.4064C>T
XR_244571.4:n.3584C>T
XR_430568.4:n.3918C>T
NM_001146706.2:c.3126C>T	NP_001140178.1:p.Ser1042=
NM_004653.5:c.3297C>T MANE Select	NP_004644.2:p.Ser1099=
NM_001146705.2:c.3390C>T	NP_001140177.1:p.Ser1130=