Canonical Allele Identifier: CA414844269

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869831G>C (hg19) ; chrY:g.19707945G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707945G>C , CM000686.2:g.19707945G>C	GRCh38
NC_000024.9:g.21869831G>C , CM000686.1:g.21869831G>C	GRCh37
NC_000024.8:g.20329219G>C	NCBI36
NG_032920.1:g.41995C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3388C>G MANE Select	ENSP00000322408.4:p.Pro1130Ala
ENST00000317961.8:c.3388C>G	ENSP00000322408.4:p.Pro1130Ala
ENST00000382806.6:c.3217C>G	ENSP00000372256.2:p.Pro1073Ala
ENST00000415360.1:c.304C>G	ENSP00000389433.1:p.Pro102Ala
ENST00000440077.5:c.3265C>G	ENSP00000398543.1:p.Pro1089Ala
ENST00000469599.6:n.1986C>G
ENST00000492117.1:n.3280C>G
ENST00000541639.5:c.3481C>G	ENSP00000444293.1:p.Pro1161Ala
NM_001146705.1:c.3481C>G	NP_001140177.1:p.Pro1161Ala
NM_001146706.1:c.3217C>G	NP_001140178.1:p.Pro1073Ala
NM_004653.4:c.3388C>G	NP_004644.2:p.Pro1130Ala
XM_005262560.1:c.3253C>G	XP_005262617.1:p.Pro1085Ala
XM_005262561.1:c.3157C>G	XP_005262618.1:p.Pro1053Ala
XM_011531468.1:c.3310C>G	XP_011529770.1:p.Pro1104Ala
XR_244571.2:n.3676C>G
XR_430568.2:n.4010C>G
XM_005262560.3:c.3253C>G	XP_005262617.1:p.Pro1085Ala
XM_005262561.3:c.3157C>G	XP_005262618.1:p.Pro1053Ala
XM_011531468.3:c.3310C>G	XP_011529770.1:p.Pro1104Ala
XM_024452495.1:c.1378C>G	XP_024308263.1:p.Pro460Ala
XM_024452496.1:c.1144C>G	XP_024308264.1:p.Pro382Ala
XR_001756009.2:n.4126C>G
XR_001756010.2:n.4126C>G
XR_001756011.2:n.3991C>G
XR_001756012.2:n.4139C>G
XR_001756013.2:n.3457C>G
XR_002958832.1:n.3558C>G
XR_002958834.1:n.3782C>G
XR_002958835.1:n.3665C>G
XR_002958836.1:n.4348C>G
XR_002958837.1:n.4155C>G
XR_244571.4:n.3675C>G
XR_430568.4:n.4009C>G
NM_001146706.2:c.3217C>G	NP_001140178.1:p.Pro1073Ala
NM_004653.5:c.3388C>G MANE Select	NP_004644.2:p.Pro1130Ala
NM_001146705.2:c.3481C>G	NP_001140177.1:p.Pro1161Ala