Canonical Allele Identifier: CA337441319
Gene: KDM5D HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.19744721T>C
GRCh37 chrY:g.21906607T>C
gnomAD v3:
Y:19744721 T / C
gnomAD v4:
chrY-19744721-T-C
Joint Max Group AF 0.00166337 (SAS)
Genomes Max Group AF 0.00080751 (NFE)
Exomes Max Group AF 0.00172732 (AMR)
dbSNP:
34694026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19744721T>C , CM000686.2:g.19744721T>C GRCh38
NC_000024.9:g.21906607T>C , CM000686.1:g.21906607T>C GRCh37
NC_000024.8:g.20365995T>C NCBI36
NG_032920.1:g.5219A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.-70A>G MANE Select ENSP00000322408.4:n.-70A>G
ENST00000317961.8:c.-70A>G ENSP00000322408.4:n.-70A>G
ENST00000382806.6:c.-70A>G ENSP00000372256.2:n.-70A>G
ENST00000440077.5:c.-70A>G ENSP00000398543.1:n.-70A>G
ENST00000541639.5:c.-70A>G ENSP00000444293.1:n.-70A>G
NM_001146705.1:c.-70A>G NP_001140177.1:n.-70A>G
NM_001146706.1:c.-70A>G NP_001140178.1:n.-70A>G
NM_004653.4:c.-70A>G NP_004644.2:n.-70A>G
XM_005262560.1:c.-70A>G XP_005262617.1:n.-70A>G
XM_005262561.1:c.-70A>G XP_005262618.1:n.-70A>G
XM_005262562.2:c.-70A>G XP_005262619.1:n.-70A>G
XM_011531468.1:c.-70A>G XP_011529770.1:n.-70A>G
XR_244571.2:n.219A>G
XR_430568.2:n.219A>G
XR_938609.1:n.219A>G
XR_938610.1:n.219A>G
XM_005262560.3:c.-70A>G XP_005262617.1:n.-70A>G
XM_005262561.3:c.-70A>G XP_005262618.1:n.-70A>G
XM_011531468.3:c.-70A>G XP_011529770.1:n.-70A>G
XM_024452495.1:c.-2052A>G XP_024308263.1:n.-2052A>G
XR_001756009.2:n.218A>G
XR_001756010.2:n.218A>G
XR_001756011.2:n.218A>G
XR_001756012.2:n.218A>G
XR_001756013.2:n.218A>G
XR_002958832.1:n.218A>G
XR_002958833.1:n.218A>G
XR_002958834.1:n.218A>G
XR_002958835.1:n.218A>G
XR_002958836.1:n.218A>G
XR_002958837.1:n.218A>G
XR_244571.4:n.218A>G
XR_430568.4:n.218A>G
NM_001146706.2:c.-70A>G NP_001140178.1:n.-70A>G
NM_004653.5:c.-70A>G MANE Select NP_004644.2:n.-70A>G
NM_001146705.2:c.-70A>G NP_001140177.1:n.-70A>G
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