Canonical Allele Identifier: CA337441301
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032643
gnomAD v3: Y-19744031-T-G
gnomAD v4: Y-19744031-T-G
MyVariant Identifiers: chrY:g.21905917T>G (hg19) chrY:g.19744031T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19744031T>G , CM000686.2:g.19744031T>G GRCh38
NC_000024.9:g.21905917T>G , CM000686.1:g.21905917T>G GRCh37
NC_000024.8:g.20365305T>G NCBI36
NG_032920.1:g.5909A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.150+354A>C MANE Select ENSP00000322408.4:n.150+354A>C
ENST00000317961.8:c.150+354A>C ENSP00000322408.4:n.150+354A>C
ENST00000382806.6:c.150+354A>C ENSP00000372256.2:n.150+354A>C
ENST00000440077.5:c.150+354A>C ENSP00000398543.1:n.150+354A>C
ENST00000447300.1:c.150+354A>C ENSP00000416377.1:n.150+354A>C
ENST00000541639.5:c.150+354A>C ENSP00000444293.1:n.150+354A>C
NM_001146705.1:c.150+354A>C NP_001140177.1:n.150+354A>C
NM_001146706.1:c.150+354A>C NP_001140178.1:n.150+354A>C
NM_004653.4:c.150+354A>C NP_004644.2:n.150+354A>C
XM_005262560.1:c.150+354A>C XP_005262617.1:n.150+354A>C
XM_005262561.1:c.150+354A>C XP_005262618.1:n.150+354A>C
XM_005262562.2:c.150+354A>C XP_005262619.1:n.150+354A>C
XM_011531468.1:c.150+354A>C XP_011529770.1:n.150+354A>C
XR_244571.2:n.438+354A>C
XR_430568.2:n.438+354A>C
XR_938609.1:n.438+354A>C
XR_938610.1:n.438+354A>C
XM_005262560.3:c.150+354A>C XP_005262617.1:n.150+354A>C
XM_005262561.3:c.150+354A>C XP_005262618.1:n.150+354A>C
XM_011531468.3:c.150+354A>C XP_011529770.1:n.150+354A>C
XM_024452495.1:c.-1833+354A>C XP_024308263.1:n.-1833+354A>C
XR_001756009.2:n.437+354A>C
XR_001756010.2:n.437+354A>C
XR_001756011.2:n.437+354A>C
XR_001756012.2:n.437+354A>C
XR_001756013.2:n.437+354A>C
XR_002958832.1:n.437+354A>C
XR_002958833.1:n.437+354A>C
XR_002958834.1:n.437+354A>C
XR_002958835.1:n.437+354A>C
XR_002958836.1:n.437+354A>C
XR_002958837.1:n.437+354A>C
XR_244571.4:n.437+354A>C
XR_430568.4:n.437+354A>C
NM_001146706.2:c.150+354A>C NP_001140178.1:n.150+354A>C
NM_004653.5:c.150+354A>C MANE Select NP_004644.2:n.150+354A>C
NM_001146705.2:c.150+354A>C NP_001140177.1:n.150+354A>C
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