Canonical Allele Identifier: CA414842809

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21897315G>A (hg19) ; chrY:g.19735429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19735429G>A , CM000686.2:g.19735429G>A	GRCh38
NC_000024.9:g.21897315G>A , CM000686.1:g.21897315G>A	GRCh37
NC_000024.8:g.20356703G>A	NCBI36
NG_032920.1:g.14511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.856C>T MANE Select	ENSP00000322408.4:p.Leu286Phe
ENST00000317961.8:c.856C>T	ENSP00000322408.4:p.Leu286Phe
ENST00000382806.6:c.685C>T	ENSP00000372256.2:p.Leu229Phe
ENST00000440077.5:c.733C>T	ENSP00000398543.1:p.Leu245Phe
ENST00000447300.1:c.721C>T	ENSP00000416377.1:p.Leu241Phe
ENST00000541639.5:c.856C>T	ENSP00000444293.1:p.Leu286Phe
NM_001146705.1:c.856C>T	NP_001140177.1:p.Leu286Phe
NM_001146706.1:c.685C>T	NP_001140178.1:p.Leu229Phe
NM_004653.4:c.856C>T	NP_004644.2:p.Leu286Phe
XM_005262560.1:c.721C>T	XP_005262617.1:p.Leu241Phe
XM_005262561.1:c.856C>T	XP_005262618.1:p.Leu286Phe
XM_005262562.2:c.856C>T	XP_005262619.1:p.Leu286Phe
XM_011531468.1:c.856C>T	XP_011529770.1:p.Leu286Phe
XR_244571.2:n.1144C>T
XR_430568.2:n.1144C>T
XR_938609.1:n.1144C>T
XR_938610.1:n.1144C>T
XM_005262560.3:c.721C>T	XP_005262617.1:p.Leu241Phe
XM_005262561.3:c.856C>T	XP_005262618.1:p.Leu286Phe
XM_011531468.3:c.856C>T	XP_011529770.1:p.Leu286Phe
XM_024452495.1:c.-1262C>T	XP_024308263.1:n.-1262C>T
XR_001756009.2:n.1143C>T
XR_001756010.2:n.1143C>T
XR_001756011.2:n.1008C>T
XR_001756012.2:n.1143C>T
XR_001756013.2:n.1143C>T
XR_002958832.1:n.1143C>T
XR_002958833.1:n.1143C>T
XR_002958834.1:n.1143C>T
XR_002958835.1:n.1143C>T
XR_002958836.1:n.1143C>T
XR_002958837.1:n.1143C>T
XR_244571.4:n.1143C>T
XR_430568.4:n.1143C>T
NM_001146706.2:c.685C>T	NP_001140178.1:p.Leu229Phe
NM_004653.5:c.856C>T MANE Select	NP_004644.2:p.Leu286Phe
NM_001146705.2:c.856C>T	NP_001140177.1:p.Leu286Phe