Canonical Allele Identifier: CA396349944

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691718C>G (hg19) ; chr16:g.67657815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657815C>G , CM000678.2:g.67657815C>G	GRCh38
NC_000016.9:g.67691718C>G , CM000678.1:g.67691718C>G	GRCh37
NC_000016.8:g.66249219C>G	NCBI36
NG_042874.1:g.8001G>C
NG_054728.1:g.17897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.911G>C	ENSP00000473313.2:p.Ser304Thr
ENST00000602780.2:n.2250G>C
ENST00000602860.6:n.2165G>C
ENST00000695641.1:n.2354G>C
ENST00000695648.1:c.1227G>C	ENSP00000512081.1:p.Gln409His
ENST00000695656.1:n.2205G>C
ENST00000695657.1:n.1563G>C
ENST00000695658.1:c.1068G>C	ENSP00000512088.1:p.Gln356His
ENST00000695659.1:c.1263G>C	ENSP00000512089.1:p.Gln421His
ENST00000695662.1:c.*724G>C	ENSP00000512091.1:n.*724G>C
ENST00000695694.1:c.1200G>C	ENSP00000512105.1:p.Gln400His
ENST00000695695.1:n.1311G>C
ENST00000695696.1:n.1292G>C
ENST00000695697.1:c.1158G>C	ENSP00000512106.1:p.Gln386His
ENST00000695698.1:n.1495G>C
ENST00000695699.1:n.1665G>C
ENST00000695709.1:n.520G>C
ENST00000695710.1:n.1879G>C
ENST00000695711.1:c.*553G>C	ENSP00000512109.1:n.*553G>C
ENST00000695712.1:c.*995G>C	ENSP00000512110.1:n.*995G>C
ENST00000695731.1:c.568G>C
ENST00000695732.1:c.684G>C	ENSP00000512125.1:p.Gln228His
ENST00000695733.1:c.824G>C	ENSP00000512126.1:p.Ser275Thr
ENST00000695734.1:c.1245G>C	ENSP00000512127.1:p.Gln415His
ENST00000219251.13:c.1236G>C	ENSP00000219251.8:p.Gln412His
ENST00000620761.6:c.1245G>C MANE Select	ENSP00000478084.1:p.Gln415His
ENST00000219251.12:c.1494G>C	ENSP00000219251.7:p.Gln498His
ENST00000393919.8:c.1503G>C	ENSP00000377496.4:p.Gln501His
ENST00000602320.1:c.1198-1G>C	ENSP00000473679.2:n.1198-1G>C
ENST00000602382.5:c.453G>C
ENST00000602622.5:n.2244G>C
ENST00000602656.1:n.509G>C
ENST00000602860.5:n.1683G>C
ENST00000620338.4:c.1503G>C	ENSP00000483117.1:p.Gln501His
ENST00000620761.4:c.1245G>C	ENSP00000478084.1:p.Gln415His
NM_001082486.1:c.1503G>C	NP_001075955.1:p.Gln501His
NM_001082487.1:c.1456-1G>C	NP_001075956.1:n.1456-1G>C
NM_022914.2:c.1494G>C	NP_075065.2:p.Gln498His
XM_005256115.2:c.1416G>C	XP_005256172.1:p.Gln472His
NM_001082486.2:c.1245G>C MANE Select	NP_001075955.2:p.Gln415His
NM_022914.3:c.1236G>C	NP_075065.3:p.Gln412His
XM_005256115.4:c.1416G>C	XP_005256172.1:p.Gln472His