Canonical Allele Identifier: CA396349960

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691722A>G (hg19) ; chr16:g.67657819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657819A>G , CM000678.2:g.67657819A>G	GRCh38
NC_000016.9:g.67691722A>G , CM000678.1:g.67691722A>G	GRCh37
NC_000016.8:g.66249223A>G	NCBI36
NG_042874.1:g.7997T>C
NG_054728.1:g.17901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.907T>C	ENSP00000473313.2:p.Ser303Pro
ENST00000602780.2:n.2246T>C
ENST00000602860.6:n.2161T>C
ENST00000695641.1:n.2350T>C
ENST00000695648.1:c.1223T>C	ENSP00000512081.1:p.Phe408Ser
ENST00000695656.1:n.2201T>C
ENST00000695657.1:n.1559T>C
ENST00000695658.1:c.1064T>C	ENSP00000512088.1:p.Phe355Ser
ENST00000695659.1:c.1259T>C	ENSP00000512089.1:p.Phe420Ser
ENST00000695662.1:c.*720T>C	ENSP00000512091.1:n.*720T>C
ENST00000695694.1:c.1196T>C	ENSP00000512105.1:p.Phe399Ser
ENST00000695695.1:n.1307T>C
ENST00000695696.1:n.1288T>C
ENST00000695697.1:c.1154T>C	ENSP00000512106.1:p.Phe385Ser
ENST00000695698.1:n.1491T>C
ENST00000695699.1:n.1661T>C
ENST00000695709.1:n.516T>C
ENST00000695710.1:n.1875T>C
ENST00000695711.1:c.*549T>C	ENSP00000512109.1:n.*549T>C
ENST00000695712.1:c.*991T>C	ENSP00000512110.1:n.*991T>C
ENST00000695731.1:c.564T>C
ENST00000695732.1:c.680T>C	ENSP00000512125.1:p.Phe227Ser
ENST00000695733.1:c.820T>C	ENSP00000512126.1:p.Ser274Pro
ENST00000695734.1:c.1241T>C	ENSP00000512127.1:p.Phe414Ser
ENST00000219251.13:c.1232T>C	ENSP00000219251.8:p.Phe411Ser
ENST00000620761.6:c.1241T>C MANE Select	ENSP00000478084.1:p.Phe414Ser
ENST00000219251.12:c.1490T>C	ENSP00000219251.7:p.Phe497Ser
ENST00000393919.8:c.1499T>C	ENSP00000377496.4:p.Phe500Ser
ENST00000602320.1:c.1198-5T>C	ENSP00000473679.2:n.1198-5T>C
ENST00000602382.5:c.449T>C
ENST00000602622.5:n.2240T>C
ENST00000602656.1:n.505T>C
ENST00000602860.5:n.1679T>C
ENST00000620338.4:c.1499T>C	ENSP00000483117.1:p.Phe500Ser
ENST00000620761.4:c.1241T>C	ENSP00000478084.1:p.Phe414Ser
NM_001082486.1:c.1499T>C	NP_001075955.1:p.Phe500Ser
NM_001082487.1:c.1456-5T>C	NP_001075956.1:n.1456-5T>C
NM_022914.2:c.1490T>C	NP_075065.2:p.Phe497Ser
XM_005256115.2:c.1412T>C	XP_005256172.1:p.Phe471Ser
NM_001082486.2:c.1241T>C MANE Select	NP_001075955.2:p.Phe414Ser
NM_022914.3:c.1232T>C	NP_075065.3:p.Phe411Ser
XM_005256115.4:c.1412T>C	XP_005256172.1:p.Phe471Ser