Canonical Allele Identifier: CA396349796

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691672C>A (hg19) ; chr16:g.67657769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657769C>A , CM000678.2:g.67657769C>A	GRCh38
NC_000016.9:g.67691672C>A , CM000678.1:g.67691672C>A	GRCh37
NC_000016.8:g.66249173C>A	NCBI36
NG_042874.1:g.8047G>T
NG_054728.1:g.17851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.957G>T	ENSP00000473313.2:p.Lys319Asn
ENST00000602780.2:n.2296G>T
ENST00000602860.6:n.2211G>T
ENST00000695641.1:n.2400G>T
ENST00000695648.1:c.1273G>T	ENSP00000512081.1:p.Ala425Ser
ENST00000695656.1:n.2251G>T
ENST00000695657.1:n.1609G>T
ENST00000695658.1:c.1114G>T	ENSP00000512088.1:p.Ala372Ser
ENST00000695659.1:c.1309G>T	ENSP00000512089.1:p.Ala437Ser
ENST00000695662.1:c.*770G>T	ENSP00000512091.1:n.*770G>T
ENST00000695694.1:c.1246G>T	ENSP00000512105.1:p.Ala416Ser
ENST00000695695.1:n.1357G>T
ENST00000695696.1:n.1338G>T
ENST00000695697.1:c.1204G>T	ENSP00000512106.1:p.Ala402Ser
ENST00000695698.1:n.1541G>T
ENST00000695699.1:n.1711G>T
ENST00000695709.1:n.566G>T
ENST00000695711.1:c.*599G>T	ENSP00000512109.1:n.*599G>T
ENST00000695712.1:c.*1041G>T	ENSP00000512110.1:n.*1041G>T
ENST00000695731.1:c.614G>T
ENST00000695732.1:c.730G>T	ENSP00000512125.1:p.Ala244Ser
ENST00000695733.1:c.870G>T	ENSP00000512126.1:p.Lys290Asn
ENST00000695734.1:c.1291G>T	ENSP00000512127.1:p.Ala431Ser
ENST00000219251.13:c.1282G>T	ENSP00000219251.8:p.Ala428Ser
ENST00000620761.6:c.1291G>T MANE Select	ENSP00000478084.1:p.Ala431Ser
ENST00000219251.12:c.1540G>T	ENSP00000219251.7:p.Ala514Ser
ENST00000393919.8:c.1549G>T	ENSP00000377496.4:p.Ala517Ser
ENST00000602320.1:c.1243G>T	ENSP00000473679.2:p.Ala415Ser
ENST00000602382.5:c.499G>T
ENST00000602622.5:n.2290G>T
ENST00000602656.1:n.555G>T
ENST00000602860.5:n.1729G>T
ENST00000620338.4:c.1549G>T	ENSP00000483117.1:p.Ala517Ser
ENST00000620761.4:c.1291G>T	ENSP00000478084.1:p.Ala431Ser
NM_001082486.1:c.1549G>T	NP_001075955.1:p.Ala517Ser
NM_001082487.1:c.1501G>T	NP_001075956.1:p.Ala501Ser
NM_022914.2:c.1540G>T	NP_075065.2:p.Ala514Ser
XM_005256115.2:c.1462G>T	XP_005256172.1:p.Ala488Ser
NM_001082486.2:c.1291G>T MANE Select	NP_001075955.2:p.Ala431Ser
NM_022914.3:c.1282G>T	NP_075065.3:p.Ala428Ser
XM_005256115.4:c.1462G>T	XP_005256172.1:p.Ala488Ser