Canonical Allele Identifier: CA8114485
Community Standard Title: NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67658308C>T , CM000678.2:g.67658308C>T GRCh38
NC_000016.9:g.67692211C>T , CM000678.1:g.67692211C>T GRCh37
NC_000016.8:g.66249712C>T NCBI36
NG_042874.1:g.7508G>A
NG_054728.1:g.18390C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.2:c.884G>A MANE Select NP_001075955.2:p.Ser295Asn
ENST00000620761.6:c.884G>A MANE Select ENSP00000478084.1:p.Ser295Asn
NM_001082486.1:c.1142G>A NP_001075955.1:p.Ser381Asn
NM_001082487.1:c.1133G>A NP_001075956.1:p.Ser378Asn
NM_022914.2:c.1133G>A NP_075065.2:p.Ser378Asn
NM_022914.3:c.875G>A NP_075065.3:p.Ser292Asn
ENST00000219251.12:c.1133G>A ENSP00000219251.7:p.Ser378Asn
ENST00000219251.13:c.875G>A ENSP00000219251.8:p.Ser292Asn
ENST00000393919.8:c.1142G>A ENSP00000377496.4:p.Ser381Asn
ENST00000602320.1:c.875G>A ENSP00000473679.2:p.Ser292Asn
ENST00000602382.5:c.371+247G>A
ENST00000602382.6:c.829+247G>A ENSP00000473313.2:n.829+247G>A
ENST00000602519.2:n.1374G>A
ENST00000602622.5:n.1883G>A
ENST00000602656.1:n.16G>A
ENST00000602780.2:n.1889G>A
ENST00000602850.5:c.715G>A ENSP00000473595.2:n.715G>A
ENST00000602850.6:c.*664G>A ENSP00000473595.3:n.*664G>A
ENST00000602860.5:n.1322G>A
ENST00000602860.6:n.1804G>A
ENST00000620338.4:c.1142G>A ENSP00000483117.1:p.Ser381Asn
ENST00000620761.4:c.884G>A ENSP00000478084.1:p.Ser295Asn
ENST00000695641.1:n.1993G>A
ENST00000695648.1:c.866G>A ENSP00000512081.1:p.Ser289Asn
ENST00000695649.1:n.2085G>A
ENST00000695656.1:n.1712G>A
ENST00000695657.1:n.1202G>A
ENST00000695658.1:c.884G>A ENSP00000512088.1:p.Ser295Asn
ENST00000695659.1:c.884G>A ENSP00000512089.1:p.Ser295Asn
ENST00000695660.1:n.1508G>A
ENST00000695661.1:c.*363G>A ENSP00000512090.1:n.*363G>A
ENST00000695662.1:c.*363G>A ENSP00000512091.1:n.*363G>A
ENST00000695694.1:c.839G>A ENSP00000512105.1:p.Ser280Asn
ENST00000695695.1:n.950G>A
ENST00000695696.1:n.1210+247G>A
ENST00000695697.1:c.797G>A ENSP00000512106.1:p.Ser266Asn
ENST00000695698.1:n.1134G>A
ENST00000695699.1:n.1172G>A
ENST00000695700.1:n.1441G>A
ENST00000695701.1:n.1283G>A
ENST00000695702.1:n.1110G>A
ENST00000695709.1:n.481+247G>A
ENST00000695710.1:n.1518G>A
ENST00000695711.1:c.*192G>A ENSP00000512109.1:n.*192G>A
ENST00000695712.1:c.*634G>A ENSP00000512110.1:n.*634G>A
ENST00000695731.1:c.207G>A
ENST00000695732.1:c.646-455G>A ENSP00000512125.1:n.646-455G>A
ENST00000695733.1:c.743-280G>A ENSP00000512126.1:n.743-280G>A
ENST00000695734.1:c.884G>A ENSP00000512127.1:p.Ser295Asn
ENST00000695735.1:n.294G>A
XM_005256115.2:c.1055G>A XP_005256172.1:p.Ser352Asn
XM_005256115.4:c.1055G>A XP_005256172.1:p.Ser352Asn
XR_429727.2:n.1495G>A
XR_429727.3:n.1508G>A
XR_429728.2:n.1408G>A
XR_429728.3:n.1425G>A