Canonical Allele Identifier: CA2502864548

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67659894G>T , CM000678.2:g.67659894G>T	GRCh38
NC_000016.9:g.67693797G>T , CM000678.1:g.67693797G>T	GRCh37
NC_000016.8:g.66251298G>T	NCBI36
NG_042874.1:g.5922C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.242+9C>A MANE Select	NP_001075955.2:n.242+9C>A
ENST00000620761.6:c.242+9C>A MANE Select	ENSP00000478084.1:n.242+9C>A
NM_001082486.1:c.500+9C>A	NP_001075955.1:n.500+9C>A
NM_001082487.1:c.491+9C>A	NP_001075956.1:n.491+9C>A
NM_022914.2:c.491+9C>A	NP_075065.2:n.491+9C>A
NM_022914.3:c.233+9C>A	NP_075065.3:n.233+9C>A
ENST00000219251.12:c.491+9C>A	ENSP00000219251.7:n.491+9C>A
ENST00000219251.13:c.233+9C>A	ENSP00000219251.8:n.233+9C>A
ENST00000393919.8:c.500+9C>A	ENSP00000377496.4:n.500+9C>A
ENST00000602320.1:c.233+9C>A	ENSP00000473679.2:n.233+9C>A
ENST00000602382.6:c.242+9C>A	ENSP00000473313.2:n.242+9C>A
ENST00000602423.1:n.144-99C>A
ENST00000602519.1:n.254+9C>A
ENST00000602519.2:n.267+9C>A
ENST00000602622.5:n.378C>A
ENST00000602780.1:n.401+9C>A
ENST00000602780.2:n.401+9C>A
ENST00000602821.1:n.378C>A
ENST00000602850.5:c.56C>A	ENSP00000473595.2:n.56C>A
ENST00000602850.6:c.*5C>A	ENSP00000473595.3:n.*5C>A
ENST00000602860.5:n.303+9C>A
ENST00000602860.6:n.785+9C>A
ENST00000602945.5:n.312+9C>A
ENST00000602945.6:n.384+9C>A
ENST00000620338.4:c.500+9C>A	ENSP00000483117.1:n.500+9C>A
ENST00000620761.4:c.242+9C>A	ENSP00000478084.1:n.242+9C>A
ENST00000695641.1:n.782+9C>A
ENST00000695648.1:c.242+9C>A	ENSP00000512081.1:n.242+9C>A
ENST00000695649.1:n.858+9C>A
ENST00000695650.1:c.*5C>A	ENSP00000512082.1:n.*5C>A
ENST00000695656.1:n.312+9C>A
ENST00000695657.1:n.270+9C>A
ENST00000695658.1:c.242+9C>A	ENSP00000512088.1:n.242+9C>A
ENST00000695659.1:c.242+9C>A	ENSP00000512089.1:n.242+9C>A
ENST00000695660.1:n.378+9C>A
ENST00000695661.1:c.233+9C>A	ENSP00000512090.1:n.233+9C>A
ENST00000695662.1:c.242+9C>A	ENSP00000512091.1:n.242+9C>A
ENST00000695663.1:n.374+9C>A
ENST00000695694.1:c.242+9C>A	ENSP00000512105.1:n.242+9C>A
ENST00000695695.1:n.388+9C>A
ENST00000695696.1:n.246+9C>A
ENST00000695697.1:c.242+9C>A	ENSP00000512106.1:n.242+9C>A
ENST00000695698.1:n.264+9C>A
ENST00000695699.1:n.270+9C>A
ENST00000695700.1:n.230+9C>A
ENST00000695701.1:n.248+9C>A
ENST00000695710.1:n.118+9C>A
ENST00000695711.1:c.242+9C>A	ENSP00000512109.1:n.242+9C>A
ENST00000695712.1:c.242+9C>A	ENSP00000512110.1:n.242+9C>A
ENST00000695732.1:c.242+9C>A	ENSP00000512125.1:n.242+9C>A
ENST00000695733.1:c.242+9C>A	ENSP00000512126.1:n.242+9C>A
ENST00000695734.1:c.242+9C>A	ENSP00000512127.1:n.242+9C>A
XM_005256115.2:c.500+9C>A	XP_005256172.1:n.500+9C>A
XM_005256115.4:c.500+9C>A	XP_005256172.1:n.500+9C>A
XR_429727.2:n.837+9C>A
XR_429727.3:n.850+9C>A
XR_429728.2:n.837+9C>A
XR_429728.3:n.854+9C>A