Canonical Allele Identifier: CA414843881

Gene: KDM5D

Linked Data

• dbSNP Id: rs1472808224
• gnomAD v2: Y-21869527-A-G
• MyVariant Identifiers: chrY:g.21869527A>G (hg19) ; chrY:g.19707641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707641A>G , CM000686.2:g.19707641A>G	GRCh38
NC_000024.9:g.21869527A>G , CM000686.1:g.21869527A>G	GRCh37
NC_000024.8:g.20328915A>G	NCBI36
NG_032920.1:g.42299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3505T>C MANE Select	ENSP00000322408.4:p.Ser1169Pro
ENST00000317961.8:c.3505T>C	ENSP00000322408.4:p.Ser1169Pro
ENST00000382806.6:c.3334T>C	ENSP00000372256.2:p.Ser1112Pro
ENST00000415360.1:c.421T>C	ENSP00000389433.1:p.Ser141Pro
ENST00000440077.5:c.3382T>C	ENSP00000398543.1:p.Ser1128Pro
ENST00000469599.6:n.2103T>C
ENST00000492117.1:n.3397T>C
ENST00000541639.5:c.3598T>C	ENSP00000444293.1:p.Ser1200Pro
NM_001146705.1:c.3598T>C	NP_001140177.1:p.Ser1200Pro
NM_001146706.1:c.3334T>C	NP_001140178.1:p.Ser1112Pro
NM_004653.4:c.3505T>C	NP_004644.2:p.Ser1169Pro
XM_005262560.1:c.3370T>C	XP_005262617.1:p.Ser1124Pro
XM_005262561.1:c.3274T>C	XP_005262618.1:p.Ser1092Pro
XM_011531468.1:c.3427T>C	XP_011529770.1:p.Ser1143Pro
XR_244571.2:n.3793T>C
XR_430568.2:n.4127T>C
XM_005262560.3:c.3370T>C	XP_005262617.1:p.Ser1124Pro
XM_005262561.3:c.3274T>C	XP_005262618.1:p.Ser1092Pro
XM_011531468.3:c.3427T>C	XP_011529770.1:p.Ser1143Pro
XM_024452495.1:c.1495T>C	XP_024308263.1:p.Ser499Pro
XM_024452496.1:c.1261T>C	XP_024308264.1:p.Ser421Pro
XR_001756009.2:n.4243T>C
XR_001756010.2:n.4243T>C
XR_001756011.2:n.4108T>C
XR_001756012.2:n.4256T>C
XR_001756013.2:n.3574T>C
XR_002958832.1:n.3675T>C
XR_002958834.1:n.3899T>C
XR_002958835.1:n.3782T>C
XR_002958836.1:n.4465T>C
XR_002958837.1:n.4272T>C
XR_244571.4:n.3792T>C
XR_430568.4:n.4126T>C
NM_001146706.2:c.3334T>C	NP_001140178.1:p.Ser1112Pro
NM_004653.5:c.3505T>C MANE Select	NP_004644.2:p.Ser1169Pro
NM_001146705.2:c.3598T>C	NP_001140177.1:p.Ser1200Pro