Canonical Allele Identifier: CA496087521

Gene: ACD

Linked Data

• gnomAD v4: 16-67657785-G-C
• MyVariant Identifiers: chr16:g.67691688G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67657785G>C , CM000678.2:g.67657785G>C	GRCh38
NC_000016.9:g.67691688G>C , CM000678.1:g.67691688G>C	GRCh37
NC_000016.8:g.66249189G>C	NCBI36
NG_042874.1:g.8031C>G
NG_054728.1:g.17867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.941C>G	ENSP00000473313.2:p.Ser314Cys
ENST00000602780.2:n.2280C>G
ENST00000602860.6:n.2195C>G
ENST00000695641.1:n.2384C>G
ENST00000695648.1:c.1257C>G	ENSP00000512081.1:p.Leu419=
ENST00000695656.1:n.2235C>G
ENST00000695657.1:n.1593C>G
ENST00000695658.1:c.1098C>G	ENSP00000512088.1:p.Leu366=
ENST00000695659.1:c.1293C>G	ENSP00000512089.1:p.Leu431=
ENST00000695662.1:c.*754C>G	ENSP00000512091.1:n.*754C>G
ENST00000695694.1:c.1230C>G	ENSP00000512105.1:p.Leu410=
ENST00000695695.1:n.1341C>G
ENST00000695696.1:n.1322C>G
ENST00000695697.1:c.1188C>G	ENSP00000512106.1:p.Leu396=
ENST00000695698.1:n.1525C>G
ENST00000695699.1:n.1695C>G
ENST00000695709.1:n.550C>G
ENST00000695710.1:n.1909C>G
ENST00000695711.1:c.*583C>G	ENSP00000512109.1:n.*583C>G
ENST00000695712.1:c.*1025C>G	ENSP00000512110.1:n.*1025C>G
ENST00000695731.1:c.598C>G
ENST00000695732.1:c.714C>G	ENSP00000512125.1:p.Leu238=
ENST00000695733.1:c.854C>G	ENSP00000512126.1:p.Ser285Cys
ENST00000695734.1:c.1275C>G	ENSP00000512127.1:p.Leu425=
ENST00000219251.13:c.1266C>G	ENSP00000219251.8:p.Leu422=
ENST00000620761.6:c.1275C>G MANE Select	ENSP00000478084.1:p.Leu425=
ENST00000219251.12:c.1524C>G	ENSP00000219251.7:p.Leu508=
ENST00000393919.8:c.1533C>G	ENSP00000377496.4:p.Leu511=
ENST00000602320.1:c.1227C>G	ENSP00000473679.2:p.Leu409=
ENST00000602382.5:c.483C>G
ENST00000602622.5:n.2274C>G
ENST00000602656.1:n.539C>G
ENST00000602860.5:n.1713C>G
ENST00000620338.4:c.1533C>G	ENSP00000483117.1:p.Leu511=
ENST00000620761.4:c.1275C>G	ENSP00000478084.1:p.Leu425=
NM_001082486.1:c.1533C>G	NP_001075955.1:p.Leu511=
NM_001082487.1:c.1485C>G	NP_001075956.1:p.Leu495=
NM_022914.2:c.1524C>G	NP_075065.2:p.Leu508=
XM_005256115.2:c.1446C>G	XP_005256172.1:p.Leu482=
NM_001082486.2:c.1275C>G MANE Select	NP_001075955.2:p.Leu425=
NM_022914.3:c.1266C>G	NP_075065.3:p.Leu422=
XM_005256115.4:c.1446C>G	XP_005256172.1:p.Leu482=