Canonical Allele Identifier: CA2680371763
Gene: ENPP1 HGNC NCBI

Linked Data

gnomAD v4: 6-131890543-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890543T>C , CM000668.2:g.131890543T>C GRCh38
NC_000006.11:g.132211683T>C , CM000668.1:g.132211683T>C GRCh37
NC_000006.10:g.132253376T>C NCBI36
NG_008206.1:g.87528T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1241T>C
ENST00000647893.1:c.*32T>C MANE Select ENSP00000498074.1:n.*32T>C
ENST00000360971.6:c.*32T>C ENSP00000354238.2:n.*32T>C
ENST00000513998.5:c.*1647T>C ENSP00000422424.1:n.*1647T>C
NM_006208.2:c.*32T>C NP_006199.2:n.*32T>C
XM_011535896.1:c.*32T>C XP_011534198.1:n.*32T>C
NM_006208.3:c.*32T>C MANE Select NP_006199.2:n.*32T>C
Search 100 bp 5'
Search 100 bp 3'