Canonical Allele Identifier: CA414840115

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867982T>G (hg19) ; chrY:g.19706096T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706096T>G , CM000686.2:g.19706096T>G	GRCh38
NC_000024.9:g.21867982T>G , CM000686.1:g.21867982T>G	GRCh37
NC_000024.8:g.20327370T>G	NCBI36
NG_032920.1:g.43844A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4519A>C MANE Select	ENSP00000322408.4:p.Asn1507His
ENST00000317961.8:c.4519A>C	ENSP00000322408.4:p.Asn1507His
ENST00000382806.6:c.4348A>C	ENSP00000372256.2:p.Asn1450His
ENST00000440077.5:c.4396A>C	ENSP00000398543.1:p.Asn1466His
ENST00000469599.6:n.3270A>C
ENST00000492117.1:n.4564A>C
ENST00000541639.5:c.4612A>C	ENSP00000444293.1:p.Asn1538His
NM_001146705.1:c.4612A>C	NP_001140177.1:p.Asn1538His
NM_001146706.1:c.4348A>C	NP_001140178.1:p.Asn1450His
NM_004653.4:c.4519A>C	NP_004644.2:p.Asn1507His
XM_005262560.1:c.4384A>C	XP_005262617.1:p.Asn1462His
XM_005262561.1:c.4288A>C	XP_005262618.1:p.Asn1430His
XM_011531468.1:c.4441A>C	XP_011529770.1:p.Asn1481His
XR_430568.2:n.5294A>C
XM_005262560.3:c.4384A>C	XP_005262617.1:p.Asn1462His
XM_005262561.3:c.4288A>C	XP_005262618.1:p.Asn1430His
XM_011531468.3:c.4441A>C	XP_011529770.1:p.Asn1481His
XM_024452495.1:c.2509A>C	XP_024308263.1:p.Asn837His
XM_024452496.1:c.2275A>C	XP_024308264.1:p.Asn759His
XR_001756009.2:n.5257A>C
XR_001756010.2:n.5225A>C
XR_001756011.2:n.5122A>C
XR_001756012.2:n.5270A>C
XR_001756013.2:n.4588A>C
XR_002958832.1:n.4842A>C
XR_002958834.1:n.4913A>C
XR_002958835.1:n.4796A>C
XR_002958836.1:n.5447A>C
XR_002958837.1:n.5254A>C
XR_244571.4:n.4774A>C
XR_430568.4:n.5293A>C
NM_001146706.2:c.4348A>C	NP_001140178.1:p.Asn1450His
NM_004653.5:c.4519A>C MANE Select	NP_004644.2:p.Asn1507His
NM_001146705.2:c.4612A>C	NP_001140177.1:p.Asn1538His