Canonical Allele Identifier: CA414840171

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867996G>C (hg19) ; chrY:g.19706110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706110G>C , CM000686.2:g.19706110G>C	GRCh38
NC_000024.9:g.21867996G>C , CM000686.1:g.21867996G>C	GRCh37
NC_000024.8:g.20327384G>C	NCBI36
NG_032920.1:g.43830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4505C>G MANE Select	ENSP00000322408.4:p.Pro1502Arg
ENST00000317961.8:c.4505C>G	ENSP00000322408.4:p.Pro1502Arg
ENST00000382806.6:c.4334C>G	ENSP00000372256.2:p.Pro1445Arg
ENST00000440077.5:c.4382C>G	ENSP00000398543.1:p.Pro1461Arg
ENST00000469599.6:n.3256C>G
ENST00000492117.1:n.4550C>G
ENST00000541639.5:c.4598C>G	ENSP00000444293.1:p.Pro1533Arg
NM_001146705.1:c.4598C>G	NP_001140177.1:p.Pro1533Arg
NM_001146706.1:c.4334C>G	NP_001140178.1:p.Pro1445Arg
NM_004653.4:c.4505C>G	NP_004644.2:p.Pro1502Arg
XM_005262560.1:c.4370C>G	XP_005262617.1:p.Pro1457Arg
XM_005262561.1:c.4274C>G	XP_005262618.1:p.Pro1425Arg
XM_011531468.1:c.4427C>G	XP_011529770.1:p.Pro1476Arg
XR_430568.2:n.5280C>G
XM_005262560.3:c.4370C>G	XP_005262617.1:p.Pro1457Arg
XM_005262561.3:c.4274C>G	XP_005262618.1:p.Pro1425Arg
XM_011531468.3:c.4427C>G	XP_011529770.1:p.Pro1476Arg
XM_024452495.1:c.2495C>G	XP_024308263.1:p.Pro832Arg
XM_024452496.1:c.2261C>G	XP_024308264.1:p.Pro754Arg
XR_001756009.2:n.5243C>G
XR_001756010.2:n.5211C>G
XR_001756011.2:n.5108C>G
XR_001756012.2:n.5256C>G
XR_001756013.2:n.4574C>G
XR_002958832.1:n.4828C>G
XR_002958834.1:n.4899C>G
XR_002958835.1:n.4782C>G
XR_002958836.1:n.5433C>G
XR_002958837.1:n.5240C>G
XR_244571.4:n.4760C>G
XR_430568.4:n.5279C>G
NM_001146706.2:c.4334C>G	NP_001140178.1:p.Pro1445Arg
NM_004653.5:c.4505C>G MANE Select	NP_004644.2:p.Pro1502Arg
NM_001146705.2:c.4598C>G	NP_001140177.1:p.Pro1533Arg