Canonical Allele Identifier: CA467814029
Gene: CEL HGNC NCBI

Linked Data

dbSNP Id: rs488087
MyVariant Identifiers: chr9:g.135946599C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133071212C>A , CM000671.2:g.133071212C>A GRCh38
NC_000009.11:g.135946599C>A , CM000671.1:g.135946599C>A GRCh37
NC_000009.10:g.134936420C>A NCBI36
NG_016394.1:g.14235C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372080.8:c.1710C>A MANE Select ENSP00000361151.6:p.Pro570=
ENST00000372080.6:c.1719C>A ENSP00000361151.4:p.Pro573=
ENST00000621209.1:c.*710C>A ENSP00000480238.1:n.*710C>A
NM_001807.4:c.1719C>A NP_001798.2:p.Pro573=
NM_001807.5:c.1710C>A NP_001798.3:p.Pro570=
NM_001807.6:c.1710C>A MANE Select NP_001798.3:p.Pro570=
Search 100 bp 5'
Search 100 bp 3'