Canonical Allele Identifier: CA147930595

Gene: ENPP3

Linked Data

• dbSNP Id: rs528635171
• gnomAD v3: 6-131737711-C-T
• gnomAD v4: 6-131737711-C-T
• MyVariant Identifiers: chr6:g.132058851C>T (hg19) ; chr6:g.131737711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131737711C>T , CM000668.2:g.131737711C>T	GRCh38
NC_000006.11:g.132058851C>T , CM000668.1:g.132058851C>T	GRCh37
NC_000006.10:g.132100544C>T	NCBI36
NG_033982.1:g.105410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357639.8:c.2167+279C>T MANE Select	ENSP00000350265.3:n.2167+279C>T
ENST00000357639.7:c.2167+279C>T	ENSP00000350265.3:n.2167+279C>T
ENST00000358229.6:c.*39+279C>T	ENSP00000350964.5:n.*39+279C>T
ENST00000414305.5:c.2167+279C>T	ENSP00000406261.1:n.2167+279C>T
NM_005021.3:c.2167+279C>T	NP_005012.2:n.2167+279C>T
NM_005021.4:c.2167+279C>T	NP_005012.2:n.2167+279C>T
NR_133007.1:n.2181+279C>T
XM_011535897.1:c.1405+279C>T	XP_011534199.1:n.1405+279C>T
XM_017010932.1:c.1936+279C>T	XP_016866421.1:n.1936+279C>T
XR_001743464.2:n.2365+279C>T
NM_005021.5:c.2167+279C>T MANE Select	NP_005012.2:n.2167+279C>T
NR_133007.2:n.2114+279C>T