Canonical Allele Identifier: CA8114811

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67660021C>T , CM000678.2:g.67660021C>T	GRCh38
NC_000016.9:g.67693924C>T , CM000678.1:g.67693924C>T	GRCh37
NC_000016.8:g.66251425C>T	NCBI36
NG_042874.1:g.5795G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.124G>A MANE Select	NP_001075955.2:p.Val42Ile
ENST00000620761.6:c.124G>A MANE Select	ENSP00000478084.1:p.Val42Ile
NM_001082486.1:c.382G>A	NP_001075955.1:p.Val128Ile
NM_001082487.1:c.373G>A	NP_001075956.1:p.Val125Ile
NM_022914.2:c.373G>A	NP_075065.2:p.Val125Ile
NM_022914.3:c.115G>A	NP_075065.3:p.Val39Ile
ENST00000219251.12:c.373G>A	ENSP00000219251.7:p.Val125Ile
ENST00000219251.13:c.115G>A	ENSP00000219251.8:p.Val39Ile
ENST00000393919.8:c.382G>A	ENSP00000377496.4:p.Val128Ile
ENST00000602320.1:c.115G>A	ENSP00000473679.2:p.Val39Ile
ENST00000602382.6:c.124G>A	ENSP00000473313.2:p.Val42Ile
ENST00000602423.1:n.143+101G>A
ENST00000602519.1:n.136G>A
ENST00000602519.2:n.149G>A
ENST00000602622.5:n.251G>A
ENST00000602780.1:n.283G>A
ENST00000602780.2:n.283G>A
ENST00000602821.1:n.251G>A
ENST00000602850.6:c.124G>A	ENSP00000473595.3:p.Val42Ile
ENST00000602860.5:n.185G>A
ENST00000602860.6:n.667G>A
ENST00000602945.5:n.194G>A
ENST00000602945.6:n.266G>A
ENST00000620338.4:c.382G>A	ENSP00000483117.1:p.Val128Ile
ENST00000620761.4:c.124G>A	ENSP00000478084.1:p.Val42Ile
ENST00000695641.1:n.664G>A
ENST00000695648.1:c.124G>A	ENSP00000512081.1:p.Val42Ile
ENST00000695649.1:n.740G>A
ENST00000695650.1:c.124G>A	ENSP00000512082.1:p.Val42Ile
ENST00000695656.1:n.194G>A
ENST00000695657.1:n.152G>A
ENST00000695658.1:c.124G>A	ENSP00000512088.1:p.Val42Ile
ENST00000695659.1:c.124G>A	ENSP00000512089.1:p.Val42Ile
ENST00000695660.1:n.260G>A
ENST00000695661.1:c.115G>A	ENSP00000512090.1:p.Val39Ile
ENST00000695662.1:c.124G>A	ENSP00000512091.1:p.Val42Ile
ENST00000695663.1:n.256G>A
ENST00000695694.1:c.124G>A	ENSP00000512105.1:p.Val42Ile
ENST00000695695.1:n.270G>A
ENST00000695696.1:n.128G>A
ENST00000695697.1:c.124G>A	ENSP00000512106.1:p.Val42Ile
ENST00000695698.1:n.146G>A
ENST00000695699.1:n.152G>A
ENST00000695700.1:n.112G>A
ENST00000695701.1:n.130G>A
ENST00000695711.1:c.124G>A	ENSP00000512109.1:p.Val42Ile
ENST00000695712.1:c.124G>A	ENSP00000512110.1:p.Val42Ile
ENST00000695732.1:c.124G>A	ENSP00000512125.1:p.Val42Ile
ENST00000695733.1:c.124G>A	ENSP00000512126.1:p.Val42Ile
ENST00000695734.1:c.124G>A	ENSP00000512127.1:p.Val42Ile
XM_005256115.2:c.382G>A	XP_005256172.1:p.Val128Ile
XM_005256115.4:c.382G>A	XP_005256172.1:p.Val128Ile
XR_429727.2:n.719G>A
XR_429727.3:n.732G>A
XR_429728.2:n.719G>A
XR_429728.3:n.736G>A