Canonical Allele Identifier: CA10573722
Gene: DDX3Y HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.12916264G>C
GRCh37 chrY:g.15028176G>C
gnomAD v2:
Y:15028176 G / C
gnomAD v3:
Y:12916264 G / C
gnomAD v4:
chrY-12916264-G-C
Joint Max Group AF 0.00388837 (AFR)
Genomes Max Group AF 0.0022434 (AFR)
Exomes Max Group AF 0.00515161 (AFR)
dbSNP:
72625359
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12916264G>C , CM000686.2:g.12916264G>C GRCh38
NC_000024.9:g.15028176G>C , CM000686.1:g.15028176G>C GRCh37
NC_000024.8:g.13537570G>C NCBI36
NG_012831.1:g.17158G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336079.8:c.1313G>C MANE Select ENSP00000336725.3:p.Ser438Thr
ENST00000336079.7:c.1313G>C ENSP00000336725.3:p.Ser438Thr
ENST00000360160.8:c.1313G>C ENSP00000353284.4:p.Ser438Thr
ENST00000495478.1:n.428G>C
NM_001122665.2:c.1313G>C NP_001116137.1:p.Ser438Thr
NM_001302552.1:c.1304G>C NP_001289481.1:p.Ser435Thr
NM_004660.4:c.1313G>C NP_004651.2:p.Ser438Thr
XM_006724878.1:c.1313G>C XP_006724941.1:p.Ser438Thr
XM_011531471.1:c.1313G>C XP_011529773.1:p.Ser438Thr
NM_001122665.3:c.1313G>C NP_001116137.1:p.Ser438Thr
NM_001302552.2:c.1304G>C NP_001289481.1:p.Ser435Thr
NM_001324195.1:c.1313G>C NP_001311124.1:p.Ser438Thr
NR_136716.1:n.1782G>C
NR_136717.1:n.1544G>C
NR_136718.1:n.1862G>C
NR_136719.1:n.1652G>C
NR_136720.1:n.1782G>C
NR_136721.1:n.1375G>C
NR_136722.1:n.1459G>C
NR_136723.1:n.1777G>C
NR_136724.1:n.1697G>C
XR_001756014.2:n.1417G>C
NM_004660.5:c.1313G>C MANE Select NP_004651.2:p.Ser438Thr
NM_001302552.3:c.1304G>C NP_001289481.1:p.Ser435Thr
NM_001324195.2:c.1313G>C NP_001311124.1:p.Ser438Thr
NR_136716.2:n.1700G>C
NR_136717.2:n.1462G>C
NR_136718.2:n.1780G>C
NR_136719.2:n.1570G>C
NR_136720.2:n.1700G>C
NR_136721.2:n.1365G>C
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