Canonical Allele Identifier: CA414843332

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869379G>C (hg19) ; chrY:g.19707493G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707493G>C , CM000686.2:g.19707493G>C	GRCh38
NC_000024.9:g.21869379G>C , CM000686.1:g.21869379G>C	GRCh37
NC_000024.8:g.20328767G>C	NCBI36
NG_032920.1:g.42447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3653C>G MANE Select	ENSP00000322408.4:p.Pro1218Arg
ENST00000317961.8:c.3653C>G	ENSP00000322408.4:p.Pro1218Arg
ENST00000382806.6:c.3482C>G	ENSP00000372256.2:p.Pro1161Arg
ENST00000415360.1:c.569C>G	ENSP00000389433.1:p.Pro190Arg
ENST00000440077.5:c.3530C>G	ENSP00000398543.1:p.Pro1177Arg
ENST00000469599.6:n.2251C>G
ENST00000492117.1:n.3545C>G
ENST00000541639.5:c.3746C>G	ENSP00000444293.1:p.Pro1249Arg
NM_001146705.1:c.3746C>G	NP_001140177.1:p.Pro1249Arg
NM_001146706.1:c.3482C>G	NP_001140178.1:p.Pro1161Arg
NM_004653.4:c.3653C>G	NP_004644.2:p.Pro1218Arg
XM_005262560.1:c.3518C>G	XP_005262617.1:p.Pro1173Arg
XM_005262561.1:c.3422C>G	XP_005262618.1:p.Pro1141Arg
XM_011531468.1:c.3575C>G	XP_011529770.1:p.Pro1192Arg
XR_244571.2:n.3941C>G
XR_430568.2:n.4275C>G
XM_005262560.3:c.3518C>G	XP_005262617.1:p.Pro1173Arg
XM_005262561.3:c.3422C>G	XP_005262618.1:p.Pro1141Arg
XM_011531468.3:c.3575C>G	XP_011529770.1:p.Pro1192Arg
XM_024452495.1:c.1643C>G	XP_024308263.1:p.Pro548Arg
XM_024452496.1:c.1409C>G	XP_024308264.1:p.Pro470Arg
XR_001756009.2:n.4391C>G
XR_001756010.2:n.4391C>G
XR_001756011.2:n.4256C>G
XR_001756012.2:n.4404C>G
XR_001756013.2:n.3722C>G
XR_002958832.1:n.3823C>G
XR_002958834.1:n.4047C>G
XR_002958835.1:n.3930C>G
XR_002958836.1:n.4613C>G
XR_002958837.1:n.4420C>G
XR_244571.4:n.3940C>G
XR_430568.4:n.4274C>G
NM_001146706.2:c.3482C>G	NP_001140178.1:p.Pro1161Arg
NM_004653.5:c.3653C>G MANE Select	NP_004644.2:p.Pro1218Arg
NM_001146705.2:c.3746C>G	NP_001140177.1:p.Pro1249Arg