Canonical Allele Identifier: CA414843298

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869367C>G (hg19) ; chrY:g.19707481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707481C>G , CM000686.2:g.19707481C>G	GRCh38
NC_000024.9:g.21869367C>G , CM000686.1:g.21869367C>G	GRCh37
NC_000024.8:g.20328755C>G	NCBI36
NG_032920.1:g.42459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3665G>C MANE Select	ENSP00000322408.4:p.Trp1222Ser
ENST00000317961.8:c.3665G>C	ENSP00000322408.4:p.Trp1222Ser
ENST00000382806.6:c.3494G>C	ENSP00000372256.2:p.Trp1165Ser
ENST00000415360.1:c.581G>C	ENSP00000389433.1:p.Trp194Ser
ENST00000440077.5:c.3542G>C	ENSP00000398543.1:p.Trp1181Ser
ENST00000469599.6:n.2263G>C
ENST00000492117.1:n.3557G>C
ENST00000541639.5:c.3758G>C	ENSP00000444293.1:p.Trp1253Ser
NM_001146705.1:c.3758G>C	NP_001140177.1:p.Trp1253Ser
NM_001146706.1:c.3494G>C	NP_001140178.1:p.Trp1165Ser
NM_004653.4:c.3665G>C	NP_004644.2:p.Trp1222Ser
XM_005262560.1:c.3530G>C	XP_005262617.1:p.Trp1177Ser
XM_005262561.1:c.3434G>C	XP_005262618.1:p.Trp1145Ser
XM_011531468.1:c.3587G>C	XP_011529770.1:p.Trp1196Ser
XR_244571.2:n.3953G>C
XR_430568.2:n.4287G>C
XM_005262560.3:c.3530G>C	XP_005262617.1:p.Trp1177Ser
XM_005262561.3:c.3434G>C	XP_005262618.1:p.Trp1145Ser
XM_011531468.3:c.3587G>C	XP_011529770.1:p.Trp1196Ser
XM_024452495.1:c.1655G>C	XP_024308263.1:p.Trp552Ser
XM_024452496.1:c.1421G>C	XP_024308264.1:p.Trp474Ser
XR_001756009.2:n.4403G>C
XR_001756010.2:n.4403G>C
XR_001756011.2:n.4268G>C
XR_001756012.2:n.4416G>C
XR_001756013.2:n.3734G>C
XR_002958832.1:n.3835G>C
XR_002958834.1:n.4059G>C
XR_002958835.1:n.3942G>C
XR_002958836.1:n.4625G>C
XR_002958837.1:n.4432G>C
XR_244571.4:n.3952G>C
XR_430568.4:n.4286G>C
NM_001146706.2:c.3494G>C	NP_001140178.1:p.Trp1165Ser
NM_004653.5:c.3665G>C MANE Select	NP_004644.2:p.Trp1222Ser
NM_001146705.2:c.3758G>C	NP_001140177.1:p.Trp1253Ser