Canonical Allele Identifier: CA414843213

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869345G>C (hg19) ; chrY:g.19707459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707459G>C , CM000686.2:g.19707459G>C	GRCh38
NC_000024.9:g.21869345G>C , CM000686.1:g.21869345G>C	GRCh37
NC_000024.8:g.20328733G>C	NCBI36
NG_032920.1:g.42481C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3687C>G MANE Select	ENSP00000322408.4:p.Phe1229Leu
ENST00000317961.8:c.3687C>G	ENSP00000322408.4:p.Phe1229Leu
ENST00000382806.6:c.3516C>G	ENSP00000372256.2:p.Phe1172Leu
ENST00000415360.1:c.603C>G	ENSP00000389433.1:p.Phe201Leu
ENST00000440077.5:c.3564C>G	ENSP00000398543.1:p.Phe1188Leu
ENST00000469599.6:n.2285C>G
ENST00000492117.1:n.3579C>G
ENST00000541639.5:c.3780C>G	ENSP00000444293.1:p.Phe1260Leu
NM_001146705.1:c.3780C>G	NP_001140177.1:p.Phe1260Leu
NM_001146706.1:c.3516C>G	NP_001140178.1:p.Phe1172Leu
NM_004653.4:c.3687C>G	NP_004644.2:p.Phe1229Leu
XM_005262560.1:c.3552C>G	XP_005262617.1:p.Phe1184Leu
XM_005262561.1:c.3456C>G	XP_005262618.1:p.Phe1152Leu
XM_011531468.1:c.3609C>G	XP_011529770.1:p.Phe1203Leu
XR_244571.2:n.3975C>G
XR_430568.2:n.4309C>G
XM_005262560.3:c.3552C>G	XP_005262617.1:p.Phe1184Leu
XM_005262561.3:c.3456C>G	XP_005262618.1:p.Phe1152Leu
XM_011531468.3:c.3609C>G	XP_011529770.1:p.Phe1203Leu
XM_024452495.1:c.1677C>G	XP_024308263.1:p.Phe559Leu
XM_024452496.1:c.1443C>G	XP_024308264.1:p.Phe481Leu
XR_001756009.2:n.4425C>G
XR_001756010.2:n.4425C>G
XR_001756011.2:n.4290C>G
XR_001756012.2:n.4438C>G
XR_001756013.2:n.3756C>G
XR_002958832.1:n.3857C>G
XR_002958834.1:n.4081C>G
XR_002958835.1:n.3964C>G
XR_002958836.1:n.4647C>G
XR_002958837.1:n.4454C>G
XR_244571.4:n.3974C>G
XR_430568.4:n.4308C>G
NM_001146706.2:c.3516C>G	NP_001140178.1:p.Phe1172Leu
NM_004653.5:c.3687C>G MANE Select	NP_004644.2:p.Phe1229Leu
NM_001146705.2:c.3780C>G	NP_001140177.1:p.Phe1260Leu