Canonical Allele Identifier: CA2229423025
Community Standard Title: NM_001082486.2(ACD):c.1213C= (p.Pro405=)
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67657847G= , CM000678.2:g.67657847G= GRCh38
NC_000016.9:g.67691750G= , CM000678.1:g.67691750G= GRCh37
NC_000016.8:g.66249251G= NCBI36
NG_042874.1:g.7969C=
NG_054728.1:g.17929G=

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.2:c.1213C= MANE Select NP_001075955.2:p.Pro405=
ENST00000620761.6:c.1213C= MANE Select ENSP00000478084.1:p.Pro405=
NM_001082486.1:c.1471C= NP_001075955.1:p.Pro491=
NM_001082487.1:c.1456-33C= NP_001075956.1:n.1456-33C=
NM_022914.2:c.1462C= NP_075065.2:p.Pro488=
NM_022914.3:c.1204C= NP_075065.3:p.Pro402=
ENST00000219251.12:c.1462C= ENSP00000219251.7:p.Pro488=
ENST00000219251.13:c.1204C= ENSP00000219251.8:p.Pro402=
ENST00000393919.8:c.1471C= ENSP00000377496.4:p.Pro491=
ENST00000602320.1:c.1198-33C= ENSP00000473679.2:n.1198-33C=
ENST00000602382.5:c.421C=
ENST00000602382.6:c.879C= ENSP00000473313.2:p.Pro293=
ENST00000602622.5:n.2212C=
ENST00000602656.1:n.477C=
ENST00000602780.2:n.2218C=
ENST00000602860.5:n.1651C=
ENST00000602860.6:n.2133C=
ENST00000620338.4:c.1471C= ENSP00000483117.1:p.Pro491=
ENST00000620761.4:c.1213C= ENSP00000478084.1:p.Pro405=
ENST00000695641.1:n.2322C=
ENST00000695648.1:c.1195C= ENSP00000512081.1:p.Pro399=
ENST00000695656.1:n.2173C=
ENST00000695657.1:n.1531C=
ENST00000695658.1:c.1036C= ENSP00000512088.1:p.Pro346=
ENST00000695659.1:c.1231C= ENSP00000512089.1:p.Pro411=
ENST00000695662.1:c.*692C= ENSP00000512091.1:n.*692C=
ENST00000695694.1:c.1168C= ENSP00000512105.1:p.Pro390=
ENST00000695695.1:n.1279C=
ENST00000695696.1:n.1260C=
ENST00000695697.1:c.1126C= ENSP00000512106.1:p.Pro376=
ENST00000695698.1:n.1463C=
ENST00000695699.1:n.1633C=
ENST00000695709.1:n.488C=
ENST00000695710.1:n.1847C=
ENST00000695711.1:c.*521C= ENSP00000512109.1:n.*521C=
ENST00000695712.1:c.*963C= ENSP00000512110.1:n.*963C=
ENST00000695731.1:c.536C=
ENST00000695732.1:c.652C= ENSP00000512125.1:p.Pro218=
ENST00000695733.1:c.792C= ENSP00000512126.1:p.Pro264=
ENST00000695734.1:c.1213C= ENSP00000512127.1:p.Pro405=
XM_005256115.2:c.1384C= XP_005256172.1:p.Pro462=
XM_005256115.4:c.1384C= XP_005256172.1:p.Pro462=