Canonical Allele Identifier: CA414843337

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869382G>A (hg19) ; chrY:g.19707496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707496G>A , CM000686.2:g.19707496G>A	GRCh38
NC_000024.9:g.21869382G>A , CM000686.1:g.21869382G>A	GRCh37
NC_000024.8:g.20328770G>A	NCBI36
NG_032920.1:g.42444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3650C>T MANE Select	ENSP00000322408.4:p.Ser1217Phe
ENST00000317961.8:c.3650C>T	ENSP00000322408.4:p.Ser1217Phe
ENST00000382806.6:c.3479C>T	ENSP00000372256.2:p.Ser1160Phe
ENST00000415360.1:c.566C>T	ENSP00000389433.1:p.Ser189Phe
ENST00000440077.5:c.3527C>T	ENSP00000398543.1:p.Ser1176Phe
ENST00000469599.6:n.2248C>T
ENST00000492117.1:n.3542C>T
ENST00000541639.5:c.3743C>T	ENSP00000444293.1:p.Ser1248Phe
NM_001146705.1:c.3743C>T	NP_001140177.1:p.Ser1248Phe
NM_001146706.1:c.3479C>T	NP_001140178.1:p.Ser1160Phe
NM_004653.4:c.3650C>T	NP_004644.2:p.Ser1217Phe
XM_005262560.1:c.3515C>T	XP_005262617.1:p.Ser1172Phe
XM_005262561.1:c.3419C>T	XP_005262618.1:p.Ser1140Phe
XM_011531468.1:c.3572C>T	XP_011529770.1:p.Ser1191Phe
XR_244571.2:n.3938C>T
XR_430568.2:n.4272C>T
XM_005262560.3:c.3515C>T	XP_005262617.1:p.Ser1172Phe
XM_005262561.3:c.3419C>T	XP_005262618.1:p.Ser1140Phe
XM_011531468.3:c.3572C>T	XP_011529770.1:p.Ser1191Phe
XM_024452495.1:c.1640C>T	XP_024308263.1:p.Ser547Phe
XM_024452496.1:c.1406C>T	XP_024308264.1:p.Ser469Phe
XR_001756009.2:n.4388C>T
XR_001756010.2:n.4388C>T
XR_001756011.2:n.4253C>T
XR_001756012.2:n.4401C>T
XR_001756013.2:n.3719C>T
XR_002958832.1:n.3820C>T
XR_002958834.1:n.4044C>T
XR_002958835.1:n.3927C>T
XR_002958836.1:n.4610C>T
XR_002958837.1:n.4417C>T
XR_244571.4:n.3937C>T
XR_430568.4:n.4271C>T
NM_001146706.2:c.3479C>T	NP_001140178.1:p.Ser1160Phe
NM_004653.5:c.3650C>T MANE Select	NP_004644.2:p.Ser1217Phe
NM_001146705.2:c.3743C>T	NP_001140177.1:p.Ser1248Phe