Canonical Allele Identifier: CA461348251
Gene: CPA6 HGNC NCBI

Linked Data

dbSNP Id: rs773734224
gnomAD v3: 8-67506879-G-T
gnomAD v4: 8-67506879-G-T
MyVariant Identifiers: chr8:g.68419114G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67506879G>T , CM000670.2:g.67506879G>T GRCh38
NC_000008.10:g.68419114G>T , CM000670.1:g.68419114G>T GRCh37
NC_000008.9:g.68581668G>T NCBI36
NG_027682.1:g.244507C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297770.10:c.544C>A MANE Select ENSP00000297770.4:p.Arg182=
ENST00000638254.1:c.*140C>A ENSP00000491129.1:n.*140C>A
ENST00000297770.8:c.544C>A ENSP00000297770.4:p.Arg182=
ENST00000479862.6:c.*140C>A ENSP00000419016.2:n.*140C>A
ENST00000518549.1:c.544C>A ENSP00000431112.1:p.Arg182=
NM_020361.4:c.544C>A NP_065094.3:p.Arg182=
XM_011517569.1:c.544C>A XP_011515871.1:p.Arg182=
XM_011517570.1:c.100C>A XP_011515872.1:p.Arg34=
XM_011517570.2:c.100C>A XP_011515872.1:p.Arg34=
XM_017013646.1:c.100C>A XP_016869135.1:p.Arg34=
XM_017013647.1:c.544C>A XP_016869136.1:p.Arg182=
XR_001745565.1:n.1352C>A
NM_020361.5:c.544C>A MANE Select NP_065094.3:p.Arg182=