Canonical Allele Identifier: CA414839772

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867894T>G (hg19) ; chrY:g.19706008T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706008T>G , CM000686.2:g.19706008T>G	GRCh38
NC_000024.9:g.21867894T>G , CM000686.1:g.21867894T>G	GRCh37
NC_000024.8:g.20327282T>G	NCBI36
NG_032920.1:g.43932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4607A>C MANE Select	ENSP00000322408.4:p.Glu1536Ala
ENST00000317961.8:c.4607A>C	ENSP00000322408.4:p.Glu1536Ala
ENST00000382806.6:c.4436A>C	ENSP00000372256.2:p.Glu1479Ala
ENST00000469599.6:n.3358A>C
ENST00000492117.1:n.4652A>C
ENST00000541639.5:c.4700A>C	ENSP00000444293.1:p.Glu1567Ala
NM_001146705.1:c.4700A>C	NP_001140177.1:p.Glu1567Ala
NM_001146706.1:c.4436A>C	NP_001140178.1:p.Glu1479Ala
NM_004653.4:c.4607A>C	NP_004644.2:p.Glu1536Ala
XM_005262560.1:c.4472A>C	XP_005262617.1:p.Glu1491Ala
XM_005262561.1:c.4376A>C	XP_005262618.1:p.Glu1459Ala
XM_011531468.1:c.4529A>C	XP_011529770.1:p.Glu1510Ala
XR_430568.2:n.5382A>C
XM_005262560.3:c.4472A>C	XP_005262617.1:p.Glu1491Ala
XM_005262561.3:c.4376A>C	XP_005262618.1:p.Glu1459Ala
XM_011531468.3:c.4529A>C	XP_011529770.1:p.Glu1510Ala
XM_024452495.1:c.2597A>C	XP_024308263.1:p.Glu866Ala
XM_024452496.1:c.2363A>C	XP_024308264.1:p.Glu788Ala
XR_001756009.2:n.5345A>C
XR_001756010.2:n.5313A>C
XR_001756011.2:n.5210A>C
XR_001756012.2:n.5358A>C
XR_001756013.2:n.4676A>C
XR_002958832.1:n.4930A>C
XR_002958834.1:n.5001A>C
XR_002958835.1:n.4884A>C
XR_002958836.1:n.5535A>C
XR_002958837.1:n.5342A>C
XR_244571.4:n.4862A>C
XR_430568.4:n.5381A>C
NM_001146706.2:c.4436A>C	NP_001140178.1:p.Glu1479Ala
NM_004653.5:c.4607A>C MANE Select	NP_004644.2:p.Glu1536Ala
NM_001146705.2:c.4700A>C	NP_001140177.1:p.Glu1567Ala