Canonical Allele Identifier: CA819051330

Gene: ENPP3

Linked Data

• dbSNP Id: rs1323872254
• gnomAD v3: 6-131737710-C-G
• gnomAD v4: 6-131737710-C-G
• MyVariant Identifiers: chr6:g.132058850C>G (hg19) ; chr6:g.131737710C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131737710C>G , CM000668.2:g.131737710C>G	GRCh38
NC_000006.11:g.132058850C>G , CM000668.1:g.132058850C>G	GRCh37
NC_000006.10:g.132100543C>G	NCBI36
NG_033982.1:g.105409C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357639.8:c.2167+278C>G MANE Select	ENSP00000350265.3:n.2167+278C>G
ENST00000357639.7:c.2167+278C>G	ENSP00000350265.3:n.2167+278C>G
ENST00000358229.6:c.*39+278C>G	ENSP00000350964.5:n.*39+278C>G
ENST00000414305.5:c.2167+278C>G	ENSP00000406261.1:n.2167+278C>G
NM_005021.3:c.2167+278C>G	NP_005012.2:n.2167+278C>G
NM_005021.4:c.2167+278C>G	NP_005012.2:n.2167+278C>G
NR_133007.1:n.2181+278C>G
XM_011535897.1:c.1405+278C>G	XP_011534199.1:n.1405+278C>G
XM_017010932.1:c.1936+278C>G	XP_016866421.1:n.1936+278C>G
XR_001743464.2:n.2365+278C>G
NM_005021.5:c.2167+278C>G MANE Select	NP_005012.2:n.2167+278C>G
NR_133007.2:n.2114+278C>G