Canonical Allele Identifier: CA496087536

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691694C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657791C>G , CM000678.2:g.67657791C>G	GRCh38
NC_000016.9:g.67691694C>G , CM000678.1:g.67691694C>G	GRCh37
NC_000016.8:g.66249195C>G	NCBI36
NG_042874.1:g.8025G>C
NG_054728.1:g.17873C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.935G>C	ENSP00000473313.2:p.Arg312Pro
ENST00000602780.2:n.2274G>C
ENST00000602860.6:n.2189G>C
ENST00000695641.1:n.2378G>C
ENST00000695648.1:c.1251G>C	ENSP00000512081.1:p.Thr417=
ENST00000695656.1:n.2229G>C
ENST00000695657.1:n.1587G>C
ENST00000695658.1:c.1092G>C	ENSP00000512088.1:p.Thr364=
ENST00000695659.1:c.1287G>C	ENSP00000512089.1:p.Thr429=
ENST00000695662.1:c.*748G>C	ENSP00000512091.1:n.*748G>C
ENST00000695694.1:c.1224G>C	ENSP00000512105.1:p.Thr408=
ENST00000695695.1:n.1335G>C
ENST00000695696.1:n.1316G>C
ENST00000695697.1:c.1182G>C	ENSP00000512106.1:p.Thr394=
ENST00000695698.1:n.1519G>C
ENST00000695699.1:n.1689G>C
ENST00000695709.1:n.544G>C
ENST00000695710.1:n.1903G>C
ENST00000695711.1:c.*577G>C	ENSP00000512109.1:n.*577G>C
ENST00000695712.1:c.*1019G>C	ENSP00000512110.1:n.*1019G>C
ENST00000695731.1:c.592G>C
ENST00000695732.1:c.708G>C	ENSP00000512125.1:p.Thr236=
ENST00000695733.1:c.848G>C	ENSP00000512126.1:p.Arg283Pro
ENST00000695734.1:c.1269G>C	ENSP00000512127.1:p.Thr423=
ENST00000219251.13:c.1260G>C	ENSP00000219251.8:p.Thr420=
ENST00000620761.6:c.1269G>C MANE Select	ENSP00000478084.1:p.Thr423=
ENST00000219251.12:c.1518G>C	ENSP00000219251.7:p.Thr506=
ENST00000393919.8:c.1527G>C	ENSP00000377496.4:p.Thr509=
ENST00000602320.1:c.1221G>C	ENSP00000473679.2:p.Thr407=
ENST00000602382.5:c.477G>C
ENST00000602622.5:n.2268G>C
ENST00000602656.1:n.533G>C
ENST00000602860.5:n.1707G>C
ENST00000620338.4:c.1527G>C	ENSP00000483117.1:p.Thr509=
ENST00000620761.4:c.1269G>C	ENSP00000478084.1:p.Thr423=
NM_001082486.1:c.1527G>C	NP_001075955.1:p.Thr509=
NM_001082487.1:c.1479G>C	NP_001075956.1:p.Thr493=
NM_022914.2:c.1518G>C	NP_075065.2:p.Thr506=
XM_005256115.2:c.1440G>C	XP_005256172.1:p.Thr480=
NM_001082486.2:c.1269G>C MANE Select	NP_001075955.2:p.Thr423=
NM_022914.3:c.1260G>C	NP_075065.3:p.Thr420=
XM_005256115.4:c.1440G>C	XP_005256172.1:p.Thr480=