Canonical Allele Identifier: CA8114734

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67659619G>A , CM000678.2:g.67659619G>A	GRCh38
NC_000016.9:g.67693522G>A , CM000678.1:g.67693522G>A	GRCh37
NC_000016.8:g.66251023G>A	NCBI36
NG_042874.1:g.6197C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.337-6C>T MANE Select	NP_001075955.2:n.337-6C>T
ENST00000620761.6:c.337-6C>T MANE Select	ENSP00000478084.1:n.337-6C>T
NM_001082486.1:c.595-6C>T	NP_001075955.1:n.595-6C>T
NM_001082487.1:c.586-6C>T	NP_001075956.1:n.586-6C>T
NM_022914.2:c.586-6C>T	NP_075065.2:n.586-6C>T
NM_022914.3:c.328-6C>T	NP_075065.3:n.328-6C>T
ENST00000219251.12:c.586-6C>T	ENSP00000219251.7:n.586-6C>T
ENST00000219251.13:c.328-6C>T	ENSP00000219251.8:n.328-6C>T
ENST00000393919.8:c.595-6C>T	ENSP00000377496.4:n.595-6C>T
ENST00000602320.1:c.328-6C>T	ENSP00000473679.2:n.328-6C>T
ENST00000602382.6:c.337-6C>T	ENSP00000473313.2:n.337-6C>T
ENST00000602423.1:n.238-6C>T
ENST00000602519.1:n.431C>T
ENST00000602519.2:n.444C>T
ENST00000602622.5:n.572C>T
ENST00000602780.1:n.578C>T
ENST00000602780.2:n.578C>T
ENST00000602850.5:c.168-6C>T	ENSP00000473595.2:n.168-6C>T
ENST00000602850.6:c.*117-6C>T	ENSP00000473595.3:n.*117-6C>T
ENST00000602860.5:n.398-6C>T
ENST00000602860.6:n.880-6C>T
ENST00000602945.5:n.407-6C>T
ENST00000602945.6:n.479-6C>T
ENST00000620338.4:c.595-6C>T	ENSP00000483117.1:n.595-6C>T
ENST00000620761.4:c.337-6C>T	ENSP00000478084.1:n.337-6C>T
ENST00000695641.1:n.877-6C>T
ENST00000695648.1:c.319-6C>T	ENSP00000512081.1:n.319-6C>T
ENST00000695649.1:n.953-6C>T
ENST00000695650.1:c.*99-6C>T	ENSP00000512082.1:n.*99-6C>T
ENST00000695656.1:n.407-6C>T
ENST00000695657.1:n.365-6C>T
ENST00000695658.1:c.337-6C>T	ENSP00000512088.1:n.337-6C>T
ENST00000695659.1:c.337-6C>T	ENSP00000512089.1:n.337-6C>T
ENST00000695660.1:n.473-6C>T
ENST00000695661.1:c.328-6C>T	ENSP00000512090.1:n.328-6C>T
ENST00000695662.1:c.337-6C>T	ENSP00000512091.1:n.337-6C>T
ENST00000695663.1:n.451-6C>T
ENST00000695694.1:c.337-6C>T	ENSP00000512105.1:n.337-6C>T
ENST00000695695.1:n.483-6C>T
ENST00000695696.1:n.341-6C>T
ENST00000695697.1:c.337-6C>T	ENSP00000512106.1:n.337-6C>T
ENST00000695698.1:n.359-6C>T
ENST00000695699.1:n.365-6C>T
ENST00000695700.1:n.325-6C>T
ENST00000695701.1:n.343-6C>T
ENST00000695702.1:n.69C>T
ENST00000695710.1:n.213-6C>T
ENST00000695711.1:c.337-6C>T	ENSP00000512109.1:n.337-6C>T
ENST00000695712.1:c.*87-6C>T	ENSP00000512110.1:n.*87-6C>T
ENST00000695732.1:c.337-6C>T	ENSP00000512125.1:n.337-6C>T
ENST00000695733.1:c.337-6C>T	ENSP00000512126.1:n.337-6C>T
ENST00000695734.1:c.337-6C>T	ENSP00000512127.1:n.337-6C>T
XM_005256115.2:c.595-6C>T	XP_005256172.1:n.595-6C>T
XM_005256115.4:c.595-6C>T	XP_005256172.1:n.595-6C>T
XR_429727.2:n.932-6C>T
XR_429727.3:n.945-6C>T
XR_429728.2:n.932-6C>T
XR_429728.3:n.949-6C>T