Canonical Allele Identifier: CA396349877

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691699A>C (hg19) ; chr16:g.67657796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657796A>C , CM000678.2:g.67657796A>C	GRCh38
NC_000016.9:g.67691699A>C , CM000678.1:g.67691699A>C	GRCh37
NC_000016.8:g.66249200A>C	NCBI36
NG_042874.1:g.8020T>G
NG_054728.1:g.17878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.930T>G	ENSP00000473313.2:p.Pro310=
ENST00000602780.2:n.2269T>G
ENST00000602860.6:n.2184T>G
ENST00000695641.1:n.2373T>G
ENST00000695648.1:c.1246T>G	ENSP00000512081.1:p.Cys416Gly
ENST00000695656.1:n.2224T>G
ENST00000695657.1:n.1582T>G
ENST00000695658.1:c.1087T>G	ENSP00000512088.1:p.Cys363Gly
ENST00000695659.1:c.1282T>G	ENSP00000512089.1:p.Cys428Gly
ENST00000695662.1:c.*743T>G	ENSP00000512091.1:n.*743T>G
ENST00000695694.1:c.1219T>G	ENSP00000512105.1:p.Cys407Gly
ENST00000695695.1:n.1330T>G
ENST00000695696.1:n.1311T>G
ENST00000695697.1:c.1177T>G	ENSP00000512106.1:p.Cys393Gly
ENST00000695698.1:n.1514T>G
ENST00000695699.1:n.1684T>G
ENST00000695709.1:n.539T>G
ENST00000695710.1:n.1898T>G
ENST00000695711.1:c.*572T>G	ENSP00000512109.1:n.*572T>G
ENST00000695712.1:c.*1014T>G	ENSP00000512110.1:n.*1014T>G
ENST00000695731.1:c.587T>G
ENST00000695732.1:c.703T>G	ENSP00000512125.1:p.Cys235Gly
ENST00000695733.1:c.843T>G	ENSP00000512126.1:p.Pro281=
ENST00000695734.1:c.1264T>G	ENSP00000512127.1:p.Cys422Gly
ENST00000219251.13:c.1255T>G	ENSP00000219251.8:p.Cys419Gly
ENST00000620761.6:c.1264T>G MANE Select	ENSP00000478084.1:p.Cys422Gly
ENST00000219251.12:c.1513T>G	ENSP00000219251.7:p.Cys505Gly
ENST00000393919.8:c.1522T>G	ENSP00000377496.4:p.Cys508Gly
ENST00000602320.1:c.1216T>G	ENSP00000473679.2:p.Cys406Gly
ENST00000602382.5:c.472T>G
ENST00000602622.5:n.2263T>G
ENST00000602656.1:n.528T>G
ENST00000602860.5:n.1702T>G
ENST00000620338.4:c.1522T>G	ENSP00000483117.1:p.Cys508Gly
ENST00000620761.4:c.1264T>G	ENSP00000478084.1:p.Cys422Gly
NM_001082486.1:c.1522T>G	NP_001075955.1:p.Cys508Gly
NM_001082487.1:c.1474T>G	NP_001075956.1:p.Cys492Gly
NM_022914.2:c.1513T>G	NP_075065.2:p.Cys505Gly
XM_005256115.2:c.1435T>G	XP_005256172.1:p.Cys479Gly
NM_001082486.2:c.1264T>G MANE Select	NP_001075955.2:p.Cys422Gly
NM_022914.3:c.1255T>G	NP_075065.3:p.Cys419Gly
XM_005256115.4:c.1435T>G	XP_005256172.1:p.Cys479Gly