Canonical Allele Identifier: CA414843371

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869392G>A (hg19) ; chrY:g.19707506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707506G>A , CM000686.2:g.19707506G>A	GRCh38
NC_000024.9:g.21869392G>A , CM000686.1:g.21869392G>A	GRCh37
NC_000024.8:g.20328780G>A	NCBI36
NG_032920.1:g.42434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3640C>T MANE Select	ENSP00000322408.4:p.Leu1214Phe
ENST00000317961.8:c.3640C>T	ENSP00000322408.4:p.Leu1214Phe
ENST00000382806.6:c.3469C>T	ENSP00000372256.2:p.Leu1157Phe
ENST00000415360.1:c.556C>T	ENSP00000389433.1:p.Leu186Phe
ENST00000440077.5:c.3517C>T	ENSP00000398543.1:p.Leu1173Phe
ENST00000469599.6:n.2238C>T
ENST00000492117.1:n.3532C>T
ENST00000541639.5:c.3733C>T	ENSP00000444293.1:p.Leu1245Phe
NM_001146705.1:c.3733C>T	NP_001140177.1:p.Leu1245Phe
NM_001146706.1:c.3469C>T	NP_001140178.1:p.Leu1157Phe
NM_004653.4:c.3640C>T	NP_004644.2:p.Leu1214Phe
XM_005262560.1:c.3505C>T	XP_005262617.1:p.Leu1169Phe
XM_005262561.1:c.3409C>T	XP_005262618.1:p.Leu1137Phe
XM_011531468.1:c.3562C>T	XP_011529770.1:p.Leu1188Phe
XR_244571.2:n.3928C>T
XR_430568.2:n.4262C>T
XM_005262560.3:c.3505C>T	XP_005262617.1:p.Leu1169Phe
XM_005262561.3:c.3409C>T	XP_005262618.1:p.Leu1137Phe
XM_011531468.3:c.3562C>T	XP_011529770.1:p.Leu1188Phe
XM_024452495.1:c.1630C>T	XP_024308263.1:p.Leu544Phe
XM_024452496.1:c.1396C>T	XP_024308264.1:p.Leu466Phe
XR_001756009.2:n.4378C>T
XR_001756010.2:n.4378C>T
XR_001756011.2:n.4243C>T
XR_001756012.2:n.4391C>T
XR_001756013.2:n.3709C>T
XR_002958832.1:n.3810C>T
XR_002958834.1:n.4034C>T
XR_002958835.1:n.3917C>T
XR_002958836.1:n.4600C>T
XR_002958837.1:n.4407C>T
XR_244571.4:n.3927C>T
XR_430568.4:n.4261C>T
NM_001146706.2:c.3469C>T	NP_001140178.1:p.Leu1157Phe
NM_004653.5:c.3640C>T MANE Select	NP_004644.2:p.Leu1214Phe
NM_001146705.2:c.3733C>T	NP_001140177.1:p.Leu1245Phe