Canonical Allele Identifier: CA396359229

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67660225A>G , CM000678.2:g.67660225A>G	GRCh38
NC_000016.9:g.67694128A>G , CM000678.1:g.67694128A>G	GRCh37
NC_000016.8:g.66251629A>G	NCBI36
NG_042874.1:g.5591T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.-5T>C MANE Select	NP_001075955.2:n.-5T>C
ENST00000620761.6:c.-5T>C MANE Select	ENSP00000478084.1:n.-5T>C
NM_001082486.1:c.254T>C	NP_001075955.1:p.Val85Ala
NM_001082487.1:c.254T>C	NP_001075956.1:p.Val85Ala
NM_022914.2:c.254T>C	NP_075065.2:p.Val85Ala
NM_022914.3:c.-5T>C	NP_075065.3:n.-5T>C
ENST00000219251.12:c.254T>C	ENSP00000219251.7:p.Val85Ala
ENST00000219251.13:c.-5T>C	ENSP00000219251.8:n.-5T>C
ENST00000393919.8:c.254T>C	ENSP00000377496.4:p.Val85Ala
ENST00000602320.1:c.-5T>C	ENSP00000473679.2:n.-5T>C
ENST00000602382.6:c.-5T>C	ENSP00000473313.2:n.-5T>C
ENST00000602423.1:n.40T>C
ENST00000602519.1:n.8T>C
ENST00000602519.2:n.21T>C
ENST00000602622.5:n.47T>C
ENST00000602780.1:n.79T>C
ENST00000602780.2:n.79T>C
ENST00000602821.1:n.47T>C
ENST00000602850.6:c.-5T>C	ENSP00000473595.3:n.-5T>C
ENST00000602860.5:n.57T>C
ENST00000602860.6:n.539T>C
ENST00000602945.6:n.62T>C
ENST00000620338.4:c.254T>C	ENSP00000483117.1:p.Val85Ala
ENST00000620761.4:c.-5T>C	ENSP00000478084.1:n.-5T>C
ENST00000695641.1:n.536T>C
ENST00000695648.1:c.-5T>C	ENSP00000512081.1:n.-5T>C
ENST00000695649.1:n.536T>C
ENST00000695650.1:c.-5T>C	ENSP00000512082.1:n.-5T>C
ENST00000695656.1:n.66T>C
ENST00000695657.1:n.24T>C
ENST00000695658.1:c.-5T>C	ENSP00000512088.1:n.-5T>C
ENST00000695659.1:c.-5T>C	ENSP00000512089.1:n.-5T>C
ENST00000695660.1:n.56T>C
ENST00000695661.1:c.-5T>C	ENSP00000512090.1:n.-5T>C
ENST00000695662.1:c.-5T>C	ENSP00000512091.1:n.-5T>C
ENST00000695663.1:n.52T>C
ENST00000695694.1:c.-5T>C	ENSP00000512105.1:n.-5T>C
ENST00000695695.1:n.66T>C
ENST00000695697.1:c.-5T>C	ENSP00000512106.1:n.-5T>C
ENST00000695698.1:n.18T>C
ENST00000695699.1:n.24T>C
ENST00000695701.1:n.2T>C
ENST00000695711.1:c.-5T>C	ENSP00000512109.1:n.-5T>C
ENST00000695712.1:c.-5T>C	ENSP00000512110.1:n.-5T>C
ENST00000695732.1:c.-5T>C	ENSP00000512125.1:n.-5T>C
ENST00000695733.1:c.-5T>C	ENSP00000512126.1:n.-5T>C
ENST00000695734.1:c.-5T>C	ENSP00000512127.1:n.-5T>C
XM_005256115.2:c.254T>C	XP_005256172.1:p.Val85Ala
XM_005256115.4:c.254T>C	XP_005256172.1:p.Val85Ala
XR_429727.2:n.591T>C
XR_429727.3:n.604T>C
XR_429728.2:n.591T>C
XR_429728.3:n.608T>C