Canonical Allele Identifier: CA396349812

Gene: ACD

Linked Data

• MyVariant Identifiers: chr16:g.67691675G>A (hg19) ; chr16:g.67657772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657772G>A , CM000678.2:g.67657772G>A	GRCh38
NC_000016.9:g.67691675G>A , CM000678.1:g.67691675G>A	GRCh37
NC_000016.8:g.66249176G>A	NCBI36
NG_042874.1:g.8044C>T
NG_054728.1:g.17854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.954C>T	ENSP00000473313.2:p.Ser318=
ENST00000602780.2:n.2293C>T
ENST00000602860.6:n.2208C>T
ENST00000695641.1:n.2397C>T
ENST00000695648.1:c.1270C>T	ENSP00000512081.1:p.Gln424Ter
ENST00000695656.1:n.2248C>T
ENST00000695657.1:n.1606C>T
ENST00000695658.1:c.1111C>T	ENSP00000512088.1:p.Gln371Ter
ENST00000695659.1:c.1306C>T	ENSP00000512089.1:p.Gln436Ter
ENST00000695662.1:c.*767C>T	ENSP00000512091.1:n.*767C>T
ENST00000695694.1:c.1243C>T	ENSP00000512105.1:p.Gln415Ter
ENST00000695695.1:n.1354C>T
ENST00000695696.1:n.1335C>T
ENST00000695697.1:c.1201C>T	ENSP00000512106.1:p.Gln401Ter
ENST00000695698.1:n.1538C>T
ENST00000695699.1:n.1708C>T
ENST00000695709.1:n.563C>T
ENST00000695711.1:c.*596C>T	ENSP00000512109.1:n.*596C>T
ENST00000695712.1:c.*1038C>T	ENSP00000512110.1:n.*1038C>T
ENST00000695731.1:c.611C>T
ENST00000695732.1:c.727C>T	ENSP00000512125.1:p.Gln243Ter
ENST00000695733.1:c.867C>T	ENSP00000512126.1:p.Ser289=
ENST00000695734.1:c.1288C>T	ENSP00000512127.1:p.Gln430Ter
ENST00000219251.13:c.1279C>T	ENSP00000219251.8:p.Gln427Ter
ENST00000620761.6:c.1288C>T MANE Select	ENSP00000478084.1:p.Gln430Ter
ENST00000219251.12:c.1537C>T	ENSP00000219251.7:p.Gln513Ter
ENST00000393919.8:c.1546C>T	ENSP00000377496.4:p.Gln516Ter
ENST00000602320.1:c.1240C>T	ENSP00000473679.2:p.Gln414Ter
ENST00000602382.5:c.496C>T
ENST00000602622.5:n.2287C>T
ENST00000602656.1:n.552C>T
ENST00000602860.5:n.1726C>T
ENST00000620338.4:c.1546C>T	ENSP00000483117.1:p.Gln516Ter
ENST00000620761.4:c.1288C>T	ENSP00000478084.1:p.Gln430Ter
NM_001082486.1:c.1546C>T	NP_001075955.1:p.Gln516Ter
NM_001082487.1:c.1498C>T	NP_001075956.1:p.Gln500Ter
NM_022914.2:c.1537C>T	NP_075065.2:p.Gln513Ter
XM_005256115.2:c.1459C>T	XP_005256172.1:p.Gln487Ter
NM_001082486.2:c.1288C>T MANE Select	NP_001075955.2:p.Gln430Ter
NM_022914.3:c.1279C>T	NP_075065.3:p.Gln427Ter
XM_005256115.4:c.1459C>T	XP_005256172.1:p.Gln487Ter