Canonical Allele Identifier: CA414844439

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869881T>A (hg19) ; chrY:g.19707995T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707995T>A , CM000686.2:g.19707995T>A	GRCh38
NC_000024.9:g.21869881T>A , CM000686.1:g.21869881T>A	GRCh37
NC_000024.8:g.20329269T>A	NCBI36
NG_032920.1:g.41945A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3338A>T MANE Select	ENSP00000322408.4:p.Tyr1113Phe
ENST00000317961.8:c.3338A>T	ENSP00000322408.4:p.Tyr1113Phe
ENST00000382806.6:c.3167A>T	ENSP00000372256.2:p.Tyr1056Phe
ENST00000415360.1:c.254A>T	ENSP00000389433.1:p.Tyr85Phe
ENST00000440077.5:c.3215A>T	ENSP00000398543.1:p.Tyr1072Phe
ENST00000469599.6:n.1936A>T
ENST00000492117.1:n.3230A>T
ENST00000541639.5:c.3431A>T	ENSP00000444293.1:p.Tyr1144Phe
NM_001146705.1:c.3431A>T	NP_001140177.1:p.Tyr1144Phe
NM_001146706.1:c.3167A>T	NP_001140178.1:p.Tyr1056Phe
NM_004653.4:c.3338A>T	NP_004644.2:p.Tyr1113Phe
XM_005262560.1:c.3203A>T	XP_005262617.1:p.Tyr1068Phe
XM_005262561.1:c.3107A>T	XP_005262618.1:p.Tyr1036Phe
XM_011531468.1:c.3260A>T	XP_011529770.1:p.Tyr1087Phe
XR_244571.2:n.3626A>T
XR_430568.2:n.3960A>T
XM_005262560.3:c.3203A>T	XP_005262617.1:p.Tyr1068Phe
XM_005262561.3:c.3107A>T	XP_005262618.1:p.Tyr1036Phe
XM_011531468.3:c.3260A>T	XP_011529770.1:p.Tyr1087Phe
XM_024452495.1:c.1328A>T	XP_024308263.1:p.Tyr443Phe
XM_024452496.1:c.1094A>T	XP_024308264.1:p.Tyr365Phe
XR_001756009.2:n.4076A>T
XR_001756010.2:n.4076A>T
XR_001756011.2:n.3941A>T
XR_001756012.2:n.4089A>T
XR_001756013.2:n.3407A>T
XR_002958832.1:n.3508A>T
XR_002958834.1:n.3732A>T
XR_002958835.1:n.3615A>T
XR_002958836.1:n.4298A>T
XR_002958837.1:n.4105A>T
XR_244571.4:n.3625A>T
XR_430568.4:n.3959A>T
NM_001146706.2:c.3167A>T	NP_001140178.1:p.Tyr1056Phe
NM_004653.5:c.3338A>T MANE Select	NP_004644.2:p.Tyr1113Phe
NM_001146705.2:c.3431A>T	NP_001140177.1:p.Tyr1144Phe