Canonical Allele Identifier: CA414843562

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869444G>C (hg19) ; chrY:g.19707558G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707558G>C , CM000686.2:g.19707558G>C	GRCh38
NC_000024.9:g.21869444G>C , CM000686.1:g.21869444G>C	GRCh37
NC_000024.8:g.20328832G>C	NCBI36
NG_032920.1:g.42382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3588C>G MANE Select	ENSP00000322408.4:p.Phe1196Leu
ENST00000317961.8:c.3588C>G	ENSP00000322408.4:p.Phe1196Leu
ENST00000382806.6:c.3417C>G	ENSP00000372256.2:p.Phe1139Leu
ENST00000415360.1:c.504C>G	ENSP00000389433.1:p.Phe168Leu
ENST00000440077.5:c.3465C>G	ENSP00000398543.1:p.Phe1155Leu
ENST00000469599.6:n.2186C>G
ENST00000492117.1:n.3480C>G
ENST00000541639.5:c.3681C>G	ENSP00000444293.1:p.Phe1227Leu
NM_001146705.1:c.3681C>G	NP_001140177.1:p.Phe1227Leu
NM_001146706.1:c.3417C>G	NP_001140178.1:p.Phe1139Leu
NM_004653.4:c.3588C>G	NP_004644.2:p.Phe1196Leu
XM_005262560.1:c.3453C>G	XP_005262617.1:p.Phe1151Leu
XM_005262561.1:c.3357C>G	XP_005262618.1:p.Phe1119Leu
XM_011531468.1:c.3510C>G	XP_011529770.1:p.Phe1170Leu
XR_244571.2:n.3876C>G
XR_430568.2:n.4210C>G
XM_005262560.3:c.3453C>G	XP_005262617.1:p.Phe1151Leu
XM_005262561.3:c.3357C>G	XP_005262618.1:p.Phe1119Leu
XM_011531468.3:c.3510C>G	XP_011529770.1:p.Phe1170Leu
XM_024452495.1:c.1578C>G	XP_024308263.1:p.Phe526Leu
XM_024452496.1:c.1344C>G	XP_024308264.1:p.Phe448Leu
XR_001756009.2:n.4326C>G
XR_001756010.2:n.4326C>G
XR_001756011.2:n.4191C>G
XR_001756012.2:n.4339C>G
XR_001756013.2:n.3657C>G
XR_002958832.1:n.3758C>G
XR_002958834.1:n.3982C>G
XR_002958835.1:n.3865C>G
XR_002958836.1:n.4548C>G
XR_002958837.1:n.4355C>G
XR_244571.4:n.3875C>G
XR_430568.4:n.4209C>G
NM_001146706.2:c.3417C>G	NP_001140178.1:p.Phe1139Leu
NM_004653.5:c.3588C>G MANE Select	NP_004644.2:p.Phe1196Leu
NM_001146705.2:c.3681C>G	NP_001140177.1:p.Phe1227Leu