Canonical Allele Identifier: CA414840132

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867986T>G (hg19) ; chrY:g.19706100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706100T>G , CM000686.2:g.19706100T>G	GRCh38
NC_000024.9:g.21867986T>G , CM000686.1:g.21867986T>G	GRCh37
NC_000024.8:g.20327374T>G	NCBI36
NG_032920.1:g.43840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4515A>C MANE Select	ENSP00000322408.4:p.Lys1505Asn
ENST00000317961.8:c.4515A>C	ENSP00000322408.4:p.Lys1505Asn
ENST00000382806.6:c.4344A>C	ENSP00000372256.2:p.Lys1448Asn
ENST00000440077.5:c.4392A>C	ENSP00000398543.1:p.Lys1464Asn
ENST00000469599.6:n.3266A>C
ENST00000492117.1:n.4560A>C
ENST00000541639.5:c.4608A>C	ENSP00000444293.1:p.Lys1536Asn
NM_001146705.1:c.4608A>C	NP_001140177.1:p.Lys1536Asn
NM_001146706.1:c.4344A>C	NP_001140178.1:p.Lys1448Asn
NM_004653.4:c.4515A>C	NP_004644.2:p.Lys1505Asn
XM_005262560.1:c.4380A>C	XP_005262617.1:p.Lys1460Asn
XM_005262561.1:c.4284A>C	XP_005262618.1:p.Lys1428Asn
XM_011531468.1:c.4437A>C	XP_011529770.1:p.Lys1479Asn
XR_430568.2:n.5290A>C
XM_005262560.3:c.4380A>C	XP_005262617.1:p.Lys1460Asn
XM_005262561.3:c.4284A>C	XP_005262618.1:p.Lys1428Asn
XM_011531468.3:c.4437A>C	XP_011529770.1:p.Lys1479Asn
XM_024452495.1:c.2505A>C	XP_024308263.1:p.Lys835Asn
XM_024452496.1:c.2271A>C	XP_024308264.1:p.Lys757Asn
XR_001756009.2:n.5253A>C
XR_001756010.2:n.5221A>C
XR_001756011.2:n.5118A>C
XR_001756012.2:n.5266A>C
XR_001756013.2:n.4584A>C
XR_002958832.1:n.4838A>C
XR_002958834.1:n.4909A>C
XR_002958835.1:n.4792A>C
XR_002958836.1:n.5443A>C
XR_002958837.1:n.5250A>C
XR_244571.4:n.4770A>C
XR_430568.4:n.5289A>C
NM_001146706.2:c.4344A>C	NP_001140178.1:p.Lys1448Asn
NM_004653.5:c.4515A>C MANE Select	NP_004644.2:p.Lys1505Asn
NM_001146705.2:c.4608A>C	NP_001140177.1:p.Lys1536Asn