Canonical Allele Identifier: CA396356715

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67659961C>T , CM000678.2:g.67659961C>T	GRCh38
NC_000016.9:g.67693864C>T , CM000678.1:g.67693864C>T	GRCh37
NC_000016.8:g.66251365C>T	NCBI36
NG_042874.1:g.5855G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.184G>A MANE Select	NP_001075955.2:p.Asp62Asn
ENST00000620761.6:c.184G>A MANE Select	ENSP00000478084.1:p.Asp62Asn
NM_001082486.1:c.442G>A	NP_001075955.1:p.Asp148Asn
NM_001082487.1:c.433G>A	NP_001075956.1:p.Asp145Asn
NM_022914.2:c.433G>A	NP_075065.2:p.Asp145Asn
NM_022914.3:c.175G>A	NP_075065.3:p.Asp59Asn
ENST00000219251.12:c.433G>A	ENSP00000219251.7:p.Asp145Asn
ENST00000219251.13:c.175G>A	ENSP00000219251.8:p.Asp59Asn
ENST00000393919.8:c.442G>A	ENSP00000377496.4:p.Asp148Asn
ENST00000602320.1:c.175G>A	ENSP00000473679.2:p.Asp59Asn
ENST00000602382.6:c.184G>A	ENSP00000473313.2:p.Asp62Asn
ENST00000602423.1:n.143+161G>A
ENST00000602519.1:n.196G>A
ENST00000602519.2:n.209G>A
ENST00000602622.5:n.311G>A
ENST00000602780.1:n.343G>A
ENST00000602780.2:n.343G>A
ENST00000602821.1:n.311G>A
ENST00000602850.6:c.184G>A	ENSP00000473595.3:p.Asp62Asn
ENST00000602860.5:n.245G>A
ENST00000602860.6:n.727G>A
ENST00000602945.5:n.254G>A
ENST00000602945.6:n.326G>A
ENST00000620338.4:c.442G>A	ENSP00000483117.1:p.Asp148Asn
ENST00000620761.4:c.184G>A	ENSP00000478084.1:p.Asp62Asn
ENST00000695641.1:n.724G>A
ENST00000695648.1:c.184G>A	ENSP00000512081.1:p.Asp62Asn
ENST00000695649.1:n.800G>A
ENST00000695650.1:c.184G>A	ENSP00000512082.1:p.Asp62Asn
ENST00000695656.1:n.254G>A
ENST00000695657.1:n.212G>A
ENST00000695658.1:c.184G>A	ENSP00000512088.1:p.Asp62Asn
ENST00000695659.1:c.184G>A	ENSP00000512089.1:p.Asp62Asn
ENST00000695660.1:n.320G>A
ENST00000695661.1:c.175G>A	ENSP00000512090.1:p.Asp59Asn
ENST00000695662.1:c.184G>A	ENSP00000512091.1:p.Asp62Asn
ENST00000695663.1:n.316G>A
ENST00000695694.1:c.184G>A	ENSP00000512105.1:p.Asp62Asn
ENST00000695695.1:n.330G>A
ENST00000695696.1:n.188G>A
ENST00000695697.1:c.184G>A	ENSP00000512106.1:p.Asp62Asn
ENST00000695698.1:n.206G>A
ENST00000695699.1:n.212G>A
ENST00000695700.1:n.172G>A
ENST00000695701.1:n.190G>A
ENST00000695710.1:n.60G>A
ENST00000695711.1:c.184G>A	ENSP00000512109.1:p.Asp62Asn
ENST00000695712.1:c.184G>A	ENSP00000512110.1:p.Asp62Asn
ENST00000695732.1:c.184G>A	ENSP00000512125.1:p.Asp62Asn
ENST00000695733.1:c.184G>A	ENSP00000512126.1:p.Asp62Asn
ENST00000695734.1:c.184G>A	ENSP00000512127.1:p.Asp62Asn
XM_005256115.2:c.442G>A	XP_005256172.1:p.Asp148Asn
XM_005256115.4:c.442G>A	XP_005256172.1:p.Asp148Asn
XR_429727.2:n.779G>A
XR_429727.3:n.792G>A
XR_429728.2:n.779G>A
XR_429728.3:n.796G>A