Canonical Allele Identifier: CA414843209

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869344G>C (hg19) ; chrY:g.19707458G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707458G>C , CM000686.2:g.19707458G>C	GRCh38
NC_000024.9:g.21869344G>C , CM000686.1:g.21869344G>C	GRCh37
NC_000024.8:g.20328732G>C	NCBI36
NG_032920.1:g.42482C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3688C>G MANE Select	ENSP00000322408.4:p.Leu1230Val
ENST00000317961.8:c.3688C>G	ENSP00000322408.4:p.Leu1230Val
ENST00000382806.6:c.3517C>G	ENSP00000372256.2:p.Leu1173Val
ENST00000415360.1:c.604C>G	ENSP00000389433.1:p.Leu202Val
ENST00000440077.5:c.3565C>G	ENSP00000398543.1:p.Leu1189Val
ENST00000469599.6:n.2286C>G
ENST00000492117.1:n.3580C>G
ENST00000541639.5:c.3781C>G	ENSP00000444293.1:p.Leu1261Val
NM_001146705.1:c.3781C>G	NP_001140177.1:p.Leu1261Val
NM_001146706.1:c.3517C>G	NP_001140178.1:p.Leu1173Val
NM_004653.4:c.3688C>G	NP_004644.2:p.Leu1230Val
XM_005262560.1:c.3553C>G	XP_005262617.1:p.Leu1185Val
XM_005262561.1:c.3457C>G	XP_005262618.1:p.Leu1153Val
XM_011531468.1:c.3610C>G	XP_011529770.1:p.Leu1204Val
XR_244571.2:n.3976C>G
XR_430568.2:n.4310C>G
XM_005262560.3:c.3553C>G	XP_005262617.1:p.Leu1185Val
XM_005262561.3:c.3457C>G	XP_005262618.1:p.Leu1153Val
XM_011531468.3:c.3610C>G	XP_011529770.1:p.Leu1204Val
XM_024452495.1:c.1678C>G	XP_024308263.1:p.Leu560Val
XM_024452496.1:c.1444C>G	XP_024308264.1:p.Leu482Val
XR_001756009.2:n.4426C>G
XR_001756010.2:n.4426C>G
XR_001756011.2:n.4291C>G
XR_001756012.2:n.4439C>G
XR_001756013.2:n.3757C>G
XR_002958832.1:n.3858C>G
XR_002958834.1:n.4082C>G
XR_002958835.1:n.3965C>G
XR_002958836.1:n.4648C>G
XR_002958837.1:n.4455C>G
XR_244571.4:n.3975C>G
XR_430568.4:n.4309C>G
NM_001146706.2:c.3517C>G	NP_001140178.1:p.Leu1173Val
NM_004653.5:c.3688C>G MANE Select	NP_004644.2:p.Leu1230Val
NM_001146705.2:c.3781C>G	NP_001140177.1:p.Leu1261Val