Canonical Allele Identifier: CA496087492

Gene: ACD

Linked Data

• ClinVar Variation Id: 1774921
• ClinVar RCV Id: RCV002403245
• gnomAD v4: 16-67657773-G-A
• MyVariant Identifiers: chr16:g.67691676G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657773G>A , CM000678.2:g.67657773G>A	GRCh38
NC_000016.9:g.67691676G>A , CM000678.1:g.67691676G>A	GRCh37
NC_000016.8:g.66249177G>A	NCBI36
NG_042874.1:g.8043C>T
NG_054728.1:g.17855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.953C>T	ENSP00000473313.2:p.Ser318Phe
ENST00000602780.2:n.2292C>T
ENST00000602860.6:n.2207C>T
ENST00000695641.1:n.2396C>T
ENST00000695648.1:c.1269C>T	ENSP00000512081.1:p.Val423=
ENST00000695656.1:n.2247C>T
ENST00000695657.1:n.1605C>T
ENST00000695658.1:c.1110C>T	ENSP00000512088.1:p.Val370=
ENST00000695659.1:c.1305C>T	ENSP00000512089.1:p.Val435=
ENST00000695662.1:c.*766C>T	ENSP00000512091.1:n.*766C>T
ENST00000695694.1:c.1242C>T	ENSP00000512105.1:p.Val414=
ENST00000695695.1:n.1353C>T
ENST00000695696.1:n.1334C>T
ENST00000695697.1:c.1200C>T	ENSP00000512106.1:p.Val400=
ENST00000695698.1:n.1537C>T
ENST00000695699.1:n.1707C>T
ENST00000695709.1:n.562C>T
ENST00000695711.1:c.*595C>T	ENSP00000512109.1:n.*595C>T
ENST00000695712.1:c.*1037C>T	ENSP00000512110.1:n.*1037C>T
ENST00000695731.1:c.610C>T
ENST00000695732.1:c.726C>T	ENSP00000512125.1:p.Val242=
ENST00000695733.1:c.866C>T	ENSP00000512126.1:p.Ser289Phe
ENST00000695734.1:c.1287C>T	ENSP00000512127.1:p.Val429=
ENST00000219251.13:c.1278C>T	ENSP00000219251.8:p.Val426=
ENST00000620761.6:c.1287C>T MANE Select	ENSP00000478084.1:p.Val429=
ENST00000219251.12:c.1536C>T	ENSP00000219251.7:p.Val512=
ENST00000393919.8:c.1545C>T	ENSP00000377496.4:p.Val515=
ENST00000602320.1:c.1239C>T	ENSP00000473679.2:p.Val413=
ENST00000602382.5:c.495C>T
ENST00000602622.5:n.2286C>T
ENST00000602656.1:n.551C>T
ENST00000602860.5:n.1725C>T
ENST00000620338.4:c.1545C>T	ENSP00000483117.1:p.Val515=
ENST00000620761.4:c.1287C>T	ENSP00000478084.1:p.Val429=
NM_001082486.1:c.1545C>T	NP_001075955.1:p.Val515=
NM_001082487.1:c.1497C>T	NP_001075956.1:p.Val499=
NM_022914.2:c.1536C>T	NP_075065.2:p.Val512=
XM_005256115.2:c.1458C>T	XP_005256172.1:p.Val486=
NM_001082486.2:c.1287C>T MANE Select	NP_001075955.2:p.Val429=
NM_022914.3:c.1278C>T	NP_075065.3:p.Val426=
XM_005256115.4:c.1458C>T	XP_005256172.1:p.Val486=