Canonical Allele Identifier: CA414843558

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869443G>A (hg19) ; chrY:g.19707557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707557G>A , CM000686.2:g.19707557G>A	GRCh38
NC_000024.9:g.21869443G>A , CM000686.1:g.21869443G>A	GRCh37
NC_000024.8:g.20328831G>A	NCBI36
NG_032920.1:g.42383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3589C>T MANE Select	ENSP00000322408.4:p.His1197Tyr
ENST00000317961.8:c.3589C>T	ENSP00000322408.4:p.His1197Tyr
ENST00000382806.6:c.3418C>T	ENSP00000372256.2:p.His1140Tyr
ENST00000415360.1:c.505C>T	ENSP00000389433.1:p.His169Tyr
ENST00000440077.5:c.3466C>T	ENSP00000398543.1:p.His1156Tyr
ENST00000469599.6:n.2187C>T
ENST00000492117.1:n.3481C>T
ENST00000541639.5:c.3682C>T	ENSP00000444293.1:p.His1228Tyr
NM_001146705.1:c.3682C>T	NP_001140177.1:p.His1228Tyr
NM_001146706.1:c.3418C>T	NP_001140178.1:p.His1140Tyr
NM_004653.4:c.3589C>T	NP_004644.2:p.His1197Tyr
XM_005262560.1:c.3454C>T	XP_005262617.1:p.His1152Tyr
XM_005262561.1:c.3358C>T	XP_005262618.1:p.His1120Tyr
XM_011531468.1:c.3511C>T	XP_011529770.1:p.His1171Tyr
XR_244571.2:n.3877C>T
XR_430568.2:n.4211C>T
XM_005262560.3:c.3454C>T	XP_005262617.1:p.His1152Tyr
XM_005262561.3:c.3358C>T	XP_005262618.1:p.His1120Tyr
XM_011531468.3:c.3511C>T	XP_011529770.1:p.His1171Tyr
XM_024452495.1:c.1579C>T	XP_024308263.1:p.His527Tyr
XM_024452496.1:c.1345C>T	XP_024308264.1:p.His449Tyr
XR_001756009.2:n.4327C>T
XR_001756010.2:n.4327C>T
XR_001756011.2:n.4192C>T
XR_001756012.2:n.4340C>T
XR_001756013.2:n.3658C>T
XR_002958832.1:n.3759C>T
XR_002958834.1:n.3983C>T
XR_002958835.1:n.3866C>T
XR_002958836.1:n.4549C>T
XR_002958837.1:n.4356C>T
XR_244571.4:n.3876C>T
XR_430568.4:n.4210C>T
NM_001146706.2:c.3418C>T	NP_001140178.1:p.His1140Tyr
NM_004653.5:c.3589C>T MANE Select	NP_004644.2:p.His1197Tyr
NM_001146705.2:c.3682C>T	NP_001140177.1:p.His1228Tyr