Canonical Allele Identifier: CA414843933

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869542G>C (hg19) ; chrY:g.19707656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707656G>C , CM000686.2:g.19707656G>C	GRCh38
NC_000024.9:g.21869542G>C , CM000686.1:g.21869542G>C	GRCh37
NC_000024.8:g.20328930G>C	NCBI36
NG_032920.1:g.42284C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3490C>G MANE Select	ENSP00000322408.4:p.Pro1164Ala
ENST00000317961.8:c.3490C>G	ENSP00000322408.4:p.Pro1164Ala
ENST00000382806.6:c.3319C>G	ENSP00000372256.2:p.Pro1107Ala
ENST00000415360.1:c.406C>G	ENSP00000389433.1:p.Pro136Ala
ENST00000440077.5:c.3367C>G	ENSP00000398543.1:p.Pro1123Ala
ENST00000469599.6:n.2088C>G
ENST00000492117.1:n.3382C>G
ENST00000541639.5:c.3583C>G	ENSP00000444293.1:p.Pro1195Ala
NM_001146705.1:c.3583C>G	NP_001140177.1:p.Pro1195Ala
NM_001146706.1:c.3319C>G	NP_001140178.1:p.Pro1107Ala
NM_004653.4:c.3490C>G	NP_004644.2:p.Pro1164Ala
XM_005262560.1:c.3355C>G	XP_005262617.1:p.Pro1119Ala
XM_005262561.1:c.3259C>G	XP_005262618.1:p.Pro1087Ala
XM_011531468.1:c.3412C>G	XP_011529770.1:p.Pro1138Ala
XR_244571.2:n.3778C>G
XR_430568.2:n.4112C>G
XM_005262560.3:c.3355C>G	XP_005262617.1:p.Pro1119Ala
XM_005262561.3:c.3259C>G	XP_005262618.1:p.Pro1087Ala
XM_011531468.3:c.3412C>G	XP_011529770.1:p.Pro1138Ala
XM_024452495.1:c.1480C>G	XP_024308263.1:p.Pro494Ala
XM_024452496.1:c.1246C>G	XP_024308264.1:p.Pro416Ala
XR_001756009.2:n.4228C>G
XR_001756010.2:n.4228C>G
XR_001756011.2:n.4093C>G
XR_001756012.2:n.4241C>G
XR_001756013.2:n.3559C>G
XR_002958832.1:n.3660C>G
XR_002958834.1:n.3884C>G
XR_002958835.1:n.3767C>G
XR_002958836.1:n.4450C>G
XR_002958837.1:n.4257C>G
XR_244571.4:n.3777C>G
XR_430568.4:n.4111C>G
NM_001146706.2:c.3319C>G	NP_001140178.1:p.Pro1107Ala
NM_004653.5:c.3490C>G MANE Select	NP_004644.2:p.Pro1164Ala
NM_001146705.2:c.3583C>G	NP_001140177.1:p.Pro1195Ala