Canonical Allele Identifier: CA366600634

Gene: NUDT1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_002452.4:c.247G>C MANE Select	NP_002443.3:p.Val83Leu
ENST00000356714.6:c.247G>C MANE Select	ENSP00000349148.1:p.Val83Leu
NM_001367553.1:c.247G>C	NP_001354482.1:p.Val83Leu
NM_001367554.1:c.247G>C	NP_001354483.1:p.Val83Leu
NM_001367555.1:c.247G>C	NP_001354484.1:p.Val83Leu
NM_002452.3:c.247G>C	NP_002443.3:p.Val83Leu
NM_198948.1:c.247G>C	NP_945186.1:p.Val83Leu
NM_198948.2:c.247G>C	NP_945186.1:p.Val83Leu
NM_198949.1:c.316G>C	NP_945187.1:p.Val106Leu
NM_198949.2:c.316G>C	NP_945187.1:p.Val106Leu
NM_198950.1:c.247G>C	NP_945188.1:p.Val83Leu
NM_198950.2:c.247G>C	NP_945188.1:p.Val83Leu
NM_198952.1:c.316G>C	NP_945190.1:p.Val106Leu
NM_198952.2:c.316G>C	NP_945190.1:p.Val106Leu
NM_198953.1:c.247G>C	NP_945191.1:p.Val83Leu
NM_198954.1:c.316G>C	NP_945192.1:p.Val106Leu
NR_160264.1:n.477G>C
ENST00000339737.6:c.247G>C	ENSP00000343439.2:p.Val83Leu
ENST00000343985.8:c.316G>C	ENSP00000339503.4:p.Val106Leu
ENST00000356714.5:c.247G>C	ENSP00000349148.1:p.Val83Leu
ENST00000397046.5:c.247G>C	ENSP00000380239.1:p.Val83Leu
ENST00000397048.5:c.316G>C	ENSP00000380241.1:p.Val106Leu
ENST00000397049.2:c.247G>C	ENSP00000380242.2:p.Val83Leu
ENST00000487426.1:n.503G>C