Canonical Allele Identifier: CA1683021499
Community Standard Title: NM_002452.4(NUDT1):c.247G= (p.Val83=)
Gene: NUDT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2249951G= , CM000669.2:g.2249951G= GRCh38
NC_000007.13:g.2289586G= , CM000669.1:g.2289586G= GRCh37
NC_000007.12:g.2256112G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002452.4:c.247G= MANE Select NP_002443.3:p.Val83=
ENST00000356714.6:c.247G= MANE Select ENSP00000349148.1:p.Val83=
NM_001367553.1:c.247G= NP_001354482.1:p.Val83=
NM_001367554.1:c.247G= NP_001354483.1:p.Val83=
NM_001367555.1:c.247G= NP_001354484.1:p.Val83=
NM_002452.3:c.247G= NP_002443.3:p.Val83=
NM_198948.1:c.247G= NP_945186.1:p.Val83=
NM_198948.2:c.247G= NP_945186.1:p.Val83=
NM_198949.1:c.316G= NP_945187.1:p.Val106=
NM_198949.2:c.316G= NP_945187.1:p.Val106=
NM_198950.1:c.247G= NP_945188.1:p.Val83=
NM_198950.2:c.247G= NP_945188.1:p.Val83=
NM_198952.1:c.316G= NP_945190.1:p.Val106=
NM_198952.2:c.316G= NP_945190.1:p.Val106=
NM_198953.1:c.247G= NP_945191.1:p.Val83=
NM_198954.1:c.316G= NP_945192.1:p.Val106=
NR_160264.1:n.477G=
ENST00000339737.6:c.247G= ENSP00000343439.2:p.Val83=
ENST00000343985.8:c.316G= ENSP00000339503.4:p.Val106=
ENST00000356714.5:c.247G= ENSP00000349148.1:p.Val83=
ENST00000397046.5:c.247G= ENSP00000380239.1:p.Val83=
ENST00000397048.5:c.316G= ENSP00000380241.1:p.Val106=
ENST00000397049.2:c.247G= ENSP00000380242.2:p.Val83=
ENST00000487426.1:n.503G=