Canonical Allele Identifier: CA2807436528

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657859A>G , CM000678.2:g.67657859A>G	GRCh38
NC_000016.9:g.67691762A>G , CM000678.1:g.67691762A>G	GRCh37
NC_000016.8:g.66249263A>G	NCBI36
NG_042874.1:g.7957T>C
NG_054728.1:g.17941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.873-6T>C	ENSP00000473313.2:n.873-6T>C
ENST00000602780.2:n.2212-6T>C
ENST00000602860.6:n.2127-6T>C
ENST00000695641.1:n.2316-6T>C
ENST00000695648.1:c.1189-6T>C	ENSP00000512081.1:n.1189-6T>C
ENST00000695656.1:n.2161T>C
ENST00000695657.1:n.1525-6T>C
ENST00000695658.1:c.1030-6T>C	ENSP00000512088.1:n.1030-6T>C
ENST00000695659.1:c.1219T>C	ENSP00000512089.1:p.Phe407Leu
ENST00000695662.1:c.*686-6T>C	ENSP00000512091.1:n.*686-6T>C
ENST00000695694.1:c.1162-6T>C	ENSP00000512105.1:n.1162-6T>C
ENST00000695695.1:n.1273-6T>C
ENST00000695696.1:n.1254-6T>C
ENST00000695697.1:c.1120-6T>C	ENSP00000512106.1:n.1120-6T>C
ENST00000695698.1:n.1457-6T>C
ENST00000695699.1:n.1621T>C
ENST00000695709.1:n.482-6T>C
ENST00000695710.1:n.1841-6T>C
ENST00000695711.1:c.*515-6T>C	ENSP00000512109.1:n.*515-6T>C
ENST00000695712.1:c.*957-6T>C	ENSP00000512110.1:n.*957-6T>C
ENST00000695731.1:c.530-6T>C
ENST00000695732.1:c.646-6T>C	ENSP00000512125.1:n.646-6T>C
ENST00000695733.1:c.786-6T>C	ENSP00000512126.1:n.786-6T>C
ENST00000695734.1:c.1207-6T>C	ENSP00000512127.1:n.1207-6T>C
ENST00000219251.13:c.1198-6T>C	ENSP00000219251.8:n.1198-6T>C
ENST00000620761.6:c.1207-6T>C MANE Select	ENSP00000478084.1:n.1207-6T>C
ENST00000219251.12:c.1456-6T>C	ENSP00000219251.7:n.1456-6T>C
ENST00000393919.8:c.1465-6T>C	ENSP00000377496.4:n.1465-6T>C
ENST00000602320.1:c.1198-45T>C	ENSP00000473679.2:n.1198-45T>C
ENST00000602382.5:c.415-6T>C
ENST00000602622.5:n.2206-6T>C
ENST00000602656.1:n.465T>C
ENST00000602860.5:n.1645-6T>C
ENST00000620338.4:c.1465-6T>C	ENSP00000483117.1:n.1465-6T>C
ENST00000620761.4:c.1207-6T>C	ENSP00000478084.1:n.1207-6T>C
NM_001082486.1:c.1465-6T>C	NP_001075955.1:n.1465-6T>C
NM_001082487.1:c.1456-45T>C	NP_001075956.1:n.1456-45T>C
NM_022914.2:c.1456-6T>C	NP_075065.2:n.1456-6T>C
XM_005256115.2:c.1378-6T>C	XP_005256172.1:n.1378-6T>C
NM_001082486.2:c.1207-6T>C MANE Select	NP_001075955.2:n.1207-6T>C
NM_022914.3:c.1198-6T>C	NP_075065.3:n.1198-6T>C
XM_005256115.4:c.1378-6T>C	XP_005256172.1:n.1378-6T>C