Canonical Allele Identifier: CA414843400

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869400T>A (hg19) ; chrY:g.19707514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707514T>A , CM000686.2:g.19707514T>A	GRCh38
NC_000024.9:g.21869400T>A , CM000686.1:g.21869400T>A	GRCh37
NC_000024.8:g.20328788T>A	NCBI36
NG_032920.1:g.42426A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3632A>T MANE Select	ENSP00000322408.4:p.Lys1211Met
ENST00000317961.8:c.3632A>T	ENSP00000322408.4:p.Lys1211Met
ENST00000382806.6:c.3461A>T	ENSP00000372256.2:p.Lys1154Met
ENST00000415360.1:c.548A>T	ENSP00000389433.1:p.Lys183Met
ENST00000440077.5:c.3509A>T	ENSP00000398543.1:p.Lys1170Met
ENST00000469599.6:n.2230A>T
ENST00000492117.1:n.3524A>T
ENST00000541639.5:c.3725A>T	ENSP00000444293.1:p.Lys1242Met
NM_001146705.1:c.3725A>T	NP_001140177.1:p.Lys1242Met
NM_001146706.1:c.3461A>T	NP_001140178.1:p.Lys1154Met
NM_004653.4:c.3632A>T	NP_004644.2:p.Lys1211Met
XM_005262560.1:c.3497A>T	XP_005262617.1:p.Lys1166Met
XM_005262561.1:c.3401A>T	XP_005262618.1:p.Lys1134Met
XM_011531468.1:c.3554A>T	XP_011529770.1:p.Lys1185Met
XR_244571.2:n.3920A>T
XR_430568.2:n.4254A>T
XM_005262560.3:c.3497A>T	XP_005262617.1:p.Lys1166Met
XM_005262561.3:c.3401A>T	XP_005262618.1:p.Lys1134Met
XM_011531468.3:c.3554A>T	XP_011529770.1:p.Lys1185Met
XM_024452495.1:c.1622A>T	XP_024308263.1:p.Lys541Met
XM_024452496.1:c.1388A>T	XP_024308264.1:p.Lys463Met
XR_001756009.2:n.4370A>T
XR_001756010.2:n.4370A>T
XR_001756011.2:n.4235A>T
XR_001756012.2:n.4383A>T
XR_001756013.2:n.3701A>T
XR_002958832.1:n.3802A>T
XR_002958834.1:n.4026A>T
XR_002958835.1:n.3909A>T
XR_002958836.1:n.4592A>T
XR_002958837.1:n.4399A>T
XR_244571.4:n.3919A>T
XR_430568.4:n.4253A>T
NM_001146706.2:c.3461A>T	NP_001140178.1:p.Lys1154Met
NM_004653.5:c.3632A>T MANE Select	NP_004644.2:p.Lys1211Met
NM_001146705.2:c.3725A>T	NP_001140177.1:p.Lys1242Met