Canonical Allele Identifier: CA214614
Community Standard Title: NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
Gene: ACD HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.2:c.1213C>A MANE Select NP_001075955.2:p.Pro405Thr
ENST00000620761.6:c.1213C>A MANE Select ENSP00000478084.1:p.Pro405Thr
NM_001082486.1:c.1471C>A NP_001075955.1:p.Pro491Thr
NM_001082487.1:c.1456-33C>A NP_001075956.1:n.1456-33C>A
NM_022914.2:c.1462C>A NP_075065.2:p.Pro488Thr
NM_022914.3:c.1204C>A NP_075065.3:p.Pro402Thr
ENST00000219251.12:c.1462C>A ENSP00000219251.7:p.Pro488Thr
ENST00000219251.13:c.1204C>A ENSP00000219251.8:p.Pro402Thr
ENST00000393919.8:c.1471C>A ENSP00000377496.4:p.Pro491Thr
ENST00000602320.1:c.1198-33C>A ENSP00000473679.2:n.1198-33C>A
ENST00000602382.5:c.421C>A
ENST00000602382.6:c.879C>A ENSP00000473313.2:p.Pro293=
ENST00000602622.5:n.2212C>A
ENST00000602656.1:n.477C>A
ENST00000602780.2:n.2218C>A
ENST00000602860.5:n.1651C>A
ENST00000602860.6:n.2133C>A
ENST00000620338.4:c.1471C>A ENSP00000483117.1:p.Pro491Thr
ENST00000620761.4:c.1213C>A ENSP00000478084.1:p.Pro405Thr
ENST00000695641.1:n.2322C>A
ENST00000695648.1:c.1195C>A ENSP00000512081.1:p.Pro399Thr
ENST00000695656.1:n.2173C>A
ENST00000695657.1:n.1531C>A
ENST00000695658.1:c.1036C>A ENSP00000512088.1:p.Pro346Thr
ENST00000695659.1:c.1231C>A ENSP00000512089.1:p.Pro411Thr
ENST00000695662.1:c.*692C>A ENSP00000512091.1:n.*692C>A
ENST00000695694.1:c.1168C>A ENSP00000512105.1:p.Pro390Thr
ENST00000695695.1:n.1279C>A
ENST00000695696.1:n.1260C>A
ENST00000695697.1:c.1126C>A ENSP00000512106.1:p.Pro376Thr
ENST00000695698.1:n.1463C>A
ENST00000695699.1:n.1633C>A
ENST00000695709.1:n.488C>A
ENST00000695710.1:n.1847C>A
ENST00000695711.1:c.*521C>A ENSP00000512109.1:n.*521C>A
ENST00000695712.1:c.*963C>A ENSP00000512110.1:n.*963C>A
ENST00000695731.1:c.536C>A
ENST00000695732.1:c.652C>A ENSP00000512125.1:p.Pro218Thr
ENST00000695733.1:c.792C>A ENSP00000512126.1:p.Pro264=
ENST00000695734.1:c.1213C>A ENSP00000512127.1:p.Pro405Thr
XM_005256115.2:c.1384C>A XP_005256172.1:p.Pro462Thr
XM_005256115.4:c.1384C>A XP_005256172.1:p.Pro462Thr