Canonical Allele Identifier: CA396349917

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691710T>G (hg19) ; chr16:g.67657807T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657807T>G , CM000678.2:g.67657807T>G	GRCh38
NC_000016.9:g.67691710T>G , CM000678.1:g.67691710T>G	GRCh37
NC_000016.8:g.66249211T>G	NCBI36
NG_042874.1:g.8009A>C
NG_054728.1:g.17889T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.919A>C	ENSP00000473313.2:p.Met307Leu
ENST00000602780.2:n.2258A>C
ENST00000602860.6:n.2173A>C
ENST00000695641.1:n.2362A>C
ENST00000695648.1:c.1235A>C	ENSP00000512081.1:p.Tyr412Ser
ENST00000695656.1:n.2213A>C
ENST00000695657.1:n.1571A>C
ENST00000695658.1:c.1076A>C	ENSP00000512088.1:p.Tyr359Ser
ENST00000695659.1:c.1271A>C	ENSP00000512089.1:p.Tyr424Ser
ENST00000695662.1:c.*732A>C	ENSP00000512091.1:n.*732A>C
ENST00000695694.1:c.1208A>C	ENSP00000512105.1:p.Tyr403Ser
ENST00000695695.1:n.1319A>C
ENST00000695696.1:n.1300A>C
ENST00000695697.1:c.1166A>C	ENSP00000512106.1:p.Tyr389Ser
ENST00000695698.1:n.1503A>C
ENST00000695699.1:n.1673A>C
ENST00000695709.1:n.528A>C
ENST00000695710.1:n.1887A>C
ENST00000695711.1:c.*561A>C	ENSP00000512109.1:n.*561A>C
ENST00000695712.1:c.*1003A>C	ENSP00000512110.1:n.*1003A>C
ENST00000695731.1:c.576A>C
ENST00000695732.1:c.692A>C	ENSP00000512125.1:p.Tyr231Ser
ENST00000695733.1:c.832A>C	ENSP00000512126.1:p.Met278Leu
ENST00000695734.1:c.1253A>C	ENSP00000512127.1:p.Tyr418Ser
ENST00000219251.13:c.1244A>C	ENSP00000219251.8:p.Tyr415Ser
ENST00000620761.6:c.1253A>C MANE Select	ENSP00000478084.1:p.Tyr418Ser
ENST00000219251.12:c.1502A>C	ENSP00000219251.7:p.Tyr501Ser
ENST00000393919.8:c.1511A>C	ENSP00000377496.4:p.Tyr504Ser
ENST00000602320.1:c.1205A>C	ENSP00000473679.2:p.Tyr402Ser
ENST00000602382.5:c.461A>C
ENST00000602622.5:n.2252A>C
ENST00000602656.1:n.517A>C
ENST00000602860.5:n.1691A>C
ENST00000620338.4:c.1511A>C	ENSP00000483117.1:p.Tyr504Ser
ENST00000620761.4:c.1253A>C	ENSP00000478084.1:p.Tyr418Ser
NM_001082486.1:c.1511A>C	NP_001075955.1:p.Tyr504Ser
NM_001082487.1:c.1463A>C	NP_001075956.1:p.Tyr488Ser
NM_022914.2:c.1502A>C	NP_075065.2:p.Tyr501Ser
XM_005256115.2:c.1424A>C	XP_005256172.1:p.Tyr475Ser
NM_001082486.2:c.1253A>C MANE Select	NP_001075955.2:p.Tyr418Ser
NM_022914.3:c.1244A>C	NP_075065.3:p.Tyr415Ser
XM_005256115.4:c.1424A>C	XP_005256172.1:p.Tyr475Ser