Canonical Allele Identifier: CA520160835
Gene: KDM5D HGNC NCBI

Linked Data

MyVariant Identifiers: chrY:g.21869862C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707976C>G , CM000686.2:g.19707976C>G GRCh38
NC_000024.9:g.21869862C>G , CM000686.1:g.21869862C>G GRCh37
NC_000024.8:g.20329250C>G NCBI36
NG_032920.1:g.41964G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.3357G>C MANE Select ENSP00000322408.4:p.Leu1119=
ENST00000317961.8:c.3357G>C ENSP00000322408.4:p.Leu1119=
ENST00000382806.6:c.3186G>C ENSP00000372256.2:p.Leu1062=
ENST00000415360.1:c.273G>C ENSP00000389433.1:p.Leu91=
ENST00000440077.5:c.3234G>C ENSP00000398543.1:p.Leu1078=
ENST00000469599.6:n.1955G>C
ENST00000492117.1:n.3249G>C
ENST00000541639.5:c.3450G>C ENSP00000444293.1:p.Leu1150=
NM_001146705.1:c.3450G>C NP_001140177.1:p.Leu1150=
NM_001146706.1:c.3186G>C NP_001140178.1:p.Leu1062=
NM_004653.4:c.3357G>C NP_004644.2:p.Leu1119=
XM_005262560.1:c.3222G>C XP_005262617.1:p.Leu1074=
XM_005262561.1:c.3126G>C XP_005262618.1:p.Leu1042=
XM_011531468.1:c.3279G>C XP_011529770.1:p.Leu1093=
XR_244571.2:n.3645G>C
XR_430568.2:n.3979G>C
XM_005262560.3:c.3222G>C XP_005262617.1:p.Leu1074=
XM_005262561.3:c.3126G>C XP_005262618.1:p.Leu1042=
XM_011531468.3:c.3279G>C XP_011529770.1:p.Leu1093=
XM_024452495.1:c.1347G>C XP_024308263.1:p.Leu449=
XM_024452496.1:c.1113G>C XP_024308264.1:p.Leu371=
XR_001756009.2:n.4095G>C
XR_001756010.2:n.4095G>C
XR_001756011.2:n.3960G>C
XR_001756012.2:n.4108G>C
XR_001756013.2:n.3426G>C
XR_002958832.1:n.3527G>C
XR_002958834.1:n.3751G>C
XR_002958835.1:n.3634G>C
XR_002958836.1:n.4317G>C
XR_002958837.1:n.4124G>C
XR_244571.4:n.3644G>C
XR_430568.4:n.3978G>C
NM_001146706.2:c.3186G>C NP_001140178.1:p.Leu1062=
NM_004653.5:c.3357G>C MANE Select NP_004644.2:p.Leu1119=
NM_001146705.2:c.3450G>C NP_001140177.1:p.Leu1150=