Canonical Allele Identifier: CA396358226

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67660153G>A , CM000678.2:g.67660153G>A	GRCh38
NC_000016.9:g.67694056G>A , CM000678.1:g.67694056G>A	GRCh37
NC_000016.8:g.66251557G>A	NCBI36
NG_042874.1:g.5663C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.68C>T MANE Select	NP_001075955.2:p.Pro23Leu
ENST00000620761.6:c.68C>T MANE Select	ENSP00000478084.1:p.Pro23Leu
NM_001082486.1:c.326C>T	NP_001075955.1:p.Pro109Leu
NM_001082487.1:c.326C>T	NP_001075956.1:p.Pro109Leu
NM_022914.2:c.326C>T	NP_075065.2:p.Pro109Leu
NM_022914.3:c.68C>T	NP_075065.3:p.Pro23Leu
ENST00000219251.12:c.326C>T	ENSP00000219251.7:p.Pro109Leu
ENST00000219251.13:c.68C>T	ENSP00000219251.8:p.Pro23Leu
ENST00000393919.8:c.326C>T	ENSP00000377496.4:p.Pro109Leu
ENST00000602320.1:c.68C>T	ENSP00000473679.2:p.Pro23Leu
ENST00000602382.6:c.68C>T	ENSP00000473313.2:p.Pro23Leu
ENST00000602423.1:n.112C>T
ENST00000602519.1:n.80C>T
ENST00000602519.2:n.93C>T
ENST00000602622.5:n.119C>T
ENST00000602780.1:n.151C>T
ENST00000602780.2:n.151C>T
ENST00000602821.1:n.119C>T
ENST00000602850.6:c.68C>T	ENSP00000473595.3:p.Pro23Leu
ENST00000602860.5:n.129C>T
ENST00000602860.6:n.611C>T
ENST00000602945.5:n.62C>T
ENST00000602945.6:n.134C>T
ENST00000620338.4:c.326C>T	ENSP00000483117.1:p.Pro109Leu
ENST00000620761.4:c.68C>T	ENSP00000478084.1:p.Pro23Leu
ENST00000695641.1:n.608C>T
ENST00000695648.1:c.68C>T	ENSP00000512081.1:p.Pro23Leu
ENST00000695649.1:n.608C>T
ENST00000695650.1:c.68C>T	ENSP00000512082.1:p.Pro23Leu
ENST00000695656.1:n.138C>T
ENST00000695657.1:n.96C>T
ENST00000695658.1:c.68C>T	ENSP00000512088.1:p.Pro23Leu
ENST00000695659.1:c.68C>T	ENSP00000512089.1:p.Pro23Leu
ENST00000695660.1:n.128C>T
ENST00000695661.1:c.68C>T	ENSP00000512090.1:p.Pro23Leu
ENST00000695662.1:c.68C>T	ENSP00000512091.1:p.Pro23Leu
ENST00000695663.1:n.124C>T
ENST00000695694.1:c.68C>T	ENSP00000512105.1:p.Pro23Leu
ENST00000695695.1:n.138C>T
ENST00000695696.1:n.72C>T
ENST00000695697.1:c.68C>T	ENSP00000512106.1:p.Pro23Leu
ENST00000695698.1:n.90C>T
ENST00000695699.1:n.96C>T
ENST00000695701.1:n.74C>T
ENST00000695711.1:c.68C>T	ENSP00000512109.1:p.Pro23Leu
ENST00000695712.1:c.68C>T	ENSP00000512110.1:p.Pro23Leu
ENST00000695732.1:c.68C>T	ENSP00000512125.1:p.Pro23Leu
ENST00000695733.1:c.68C>T	ENSP00000512126.1:p.Pro23Leu
ENST00000695734.1:c.68C>T	ENSP00000512127.1:p.Pro23Leu
XM_005256115.2:c.326C>T	XP_005256172.1:p.Pro109Leu
XM_005256115.4:c.326C>T	XP_005256172.1:p.Pro109Leu
XR_429727.2:n.663C>T
XR_429727.3:n.676C>T
XR_429728.2:n.663C>T
XR_429728.3:n.680C>T