Canonical Allele Identifier: CA8114529

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658585C>A , CM000678.2:g.67658585C>A	GRCh38
NC_000016.9:g.67692488C>A , CM000678.1:g.67692488C>A	GRCh37
NC_000016.8:g.66249989C>A	NCBI36
NG_042874.1:g.7231G>T
NG_054728.1:g.18667C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.799G>T MANE Select	NP_001075955.2:p.Ala267Ser
ENST00000620761.6:c.799G>T MANE Select	ENSP00000478084.1:p.Ala267Ser
NM_001082486.1:c.1057G>T	NP_001075955.1:p.Ala353Ser
NM_001082487.1:c.1048G>T	NP_001075956.1:p.Ala350Ser
NM_022914.2:c.1048G>T	NP_075065.2:p.Ala350Ser
NM_022914.3:c.790G>T	NP_075065.3:p.Ala264Ser
ENST00000219251.12:c.1048G>T	ENSP00000219251.7:p.Ala350Ser
ENST00000219251.13:c.790G>T	ENSP00000219251.8:p.Ala264Ser
ENST00000393919.8:c.1057G>T	ENSP00000377496.4:p.Ala353Ser
ENST00000602320.1:c.790G>T	ENSP00000473679.2:p.Ala264Ser
ENST00000602382.5:c.341G>T
ENST00000602382.6:c.799G>T	ENSP00000473313.2:p.Ala267Ser
ENST00000602519.2:n.1289G>T
ENST00000602622.5:n.1606G>T
ENST00000602780.2:n.1612G>T
ENST00000602850.5:c.630G>T	ENSP00000473595.2:n.630G>T
ENST00000602850.6:c.*579G>T	ENSP00000473595.3:n.*579G>T
ENST00000602860.5:n.1237G>T
ENST00000602860.6:n.1719G>T
ENST00000620338.4:c.1057G>T	ENSP00000483117.1:p.Ala353Ser
ENST00000620761.4:c.799G>T	ENSP00000478084.1:p.Ala267Ser
ENST00000695641.1:n.1716G>T
ENST00000695648.1:c.781G>T	ENSP00000512081.1:p.Ala261Ser
ENST00000695649.1:n.1808G>T
ENST00000695656.1:n.1435G>T
ENST00000695657.1:n.1147+135G>T
ENST00000695658.1:c.799G>T	ENSP00000512088.1:p.Ala267Ser
ENST00000695659.1:c.799G>T	ENSP00000512089.1:p.Ala267Ser
ENST00000695660.1:n.1423G>T
ENST00000695661.1:c.*278G>T	ENSP00000512090.1:n.*278G>T
ENST00000695662.1:c.*278G>T	ENSP00000512091.1:n.*278G>T
ENST00000695694.1:c.754G>T	ENSP00000512105.1:p.Ala252Ser
ENST00000695695.1:n.865G>T
ENST00000695696.1:n.1180G>T
ENST00000695697.1:c.742+135G>T	ENSP00000512106.1:n.742+135G>T
ENST00000695698.1:n.1049G>T
ENST00000695699.1:n.1087G>T
ENST00000695700.1:n.1164G>T
ENST00000695701.1:n.1198G>T
ENST00000695702.1:n.1025G>T
ENST00000695709.1:n.451G>T
ENST00000695710.1:n.1241G>T
ENST00000695711.1:c.*107G>T	ENSP00000512109.1:n.*107G>T
ENST00000695712.1:c.*549G>T	ENSP00000512110.1:n.*549G>T
ENST00000695731.1:c.153-223G>T
ENST00000695732.1:c.645+343G>T	ENSP00000512125.1:n.645+343G>T
ENST00000695733.1:c.742+135G>T	ENSP00000512126.1:n.742+135G>T
ENST00000695734.1:c.799G>T	ENSP00000512127.1:p.Ala267Ser
ENST00000695735.1:n.209G>T
ENST00000695736.1:c.311G>T	ENSP00000512129.1:n.311G>T
XM_005256115.2:c.1000+135G>T	XP_005256172.1:n.1000+135G>T
XM_005256115.4:c.1000+135G>T	XP_005256172.1:n.1000+135G>T
XR_429727.2:n.1410G>T
XR_429727.3:n.1423G>T
XR_429728.2:n.1353+135G>T
XR_429728.3:n.1370+135G>T