Canonical Allele Identifier: CA414843876

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869526G>C (hg19) ; chrY:g.19707640G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707640G>C , CM000686.2:g.19707640G>C	GRCh38
NC_000024.9:g.21869526G>C , CM000686.1:g.21869526G>C	GRCh37
NC_000024.8:g.20328914G>C	NCBI36
NG_032920.1:g.42300C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3506C>G MANE Select	ENSP00000322408.4:p.Ser1169Cys
ENST00000317961.8:c.3506C>G	ENSP00000322408.4:p.Ser1169Cys
ENST00000382806.6:c.3335C>G	ENSP00000372256.2:p.Ser1112Cys
ENST00000415360.1:c.422C>G	ENSP00000389433.1:p.Ser141Cys
ENST00000440077.5:c.3383C>G	ENSP00000398543.1:p.Ser1128Cys
ENST00000469599.6:n.2104C>G
ENST00000492117.1:n.3398C>G
ENST00000541639.5:c.3599C>G	ENSP00000444293.1:p.Ser1200Cys
NM_001146705.1:c.3599C>G	NP_001140177.1:p.Ser1200Cys
NM_001146706.1:c.3335C>G	NP_001140178.1:p.Ser1112Cys
NM_004653.4:c.3506C>G	NP_004644.2:p.Ser1169Cys
XM_005262560.1:c.3371C>G	XP_005262617.1:p.Ser1124Cys
XM_005262561.1:c.3275C>G	XP_005262618.1:p.Ser1092Cys
XM_011531468.1:c.3428C>G	XP_011529770.1:p.Ser1143Cys
XR_244571.2:n.3794C>G
XR_430568.2:n.4128C>G
XM_005262560.3:c.3371C>G	XP_005262617.1:p.Ser1124Cys
XM_005262561.3:c.3275C>G	XP_005262618.1:p.Ser1092Cys
XM_011531468.3:c.3428C>G	XP_011529770.1:p.Ser1143Cys
XM_024452495.1:c.1496C>G	XP_024308263.1:p.Ser499Cys
XM_024452496.1:c.1262C>G	XP_024308264.1:p.Ser421Cys
XR_001756009.2:n.4244C>G
XR_001756010.2:n.4244C>G
XR_001756011.2:n.4109C>G
XR_001756012.2:n.4257C>G
XR_001756013.2:n.3575C>G
XR_002958832.1:n.3676C>G
XR_002958834.1:n.3900C>G
XR_002958835.1:n.3783C>G
XR_002958836.1:n.4466C>G
XR_002958837.1:n.4273C>G
XR_244571.4:n.3793C>G
XR_430568.4:n.4127C>G
NM_001146706.2:c.3335C>G	NP_001140178.1:p.Ser1112Cys
NM_004653.5:c.3506C>G MANE Select	NP_004644.2:p.Ser1169Cys
NM_001146705.2:c.3599C>G	NP_001140177.1:p.Ser1200Cys