Canonical Allele Identifier: CA8114654

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67659222A>G , CM000678.2:g.67659222A>G	GRCh38
NC_000016.9:g.67693125A>G , CM000678.1:g.67693125A>G	GRCh37
NC_000016.8:g.66250626A>G	NCBI36
NG_042874.1:g.6594T>C
NG_054728.1:g.19304A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.493+7T>C MANE Select	NP_001075955.2:n.493+7T>C
ENST00000620761.6:c.493+7T>C MANE Select	ENSP00000478084.1:n.493+7T>C
NM_001082486.1:c.751+7T>C	NP_001075955.1:n.751+7T>C
NM_001082487.1:c.742+7T>C	NP_001075956.1:n.742+7T>C
NM_022914.2:c.742+7T>C	NP_075065.2:n.742+7T>C
NM_022914.3:c.484+7T>C	NP_075065.3:n.484+7T>C
ENST00000219251.12:c.742+7T>C	ENSP00000219251.7:n.742+7T>C
ENST00000219251.13:c.484+7T>C	ENSP00000219251.8:n.484+7T>C
ENST00000393919.8:c.751+7T>C	ENSP00000377496.4:n.751+7T>C
ENST00000602320.1:c.484+7T>C	ENSP00000473679.2:n.484+7T>C
ENST00000602382.5:c.35+7T>C
ENST00000602382.6:c.493+7T>C	ENSP00000473313.2:n.493+7T>C
ENST00000602519.1:n.828T>C
ENST00000602519.2:n.841T>C
ENST00000602622.5:n.969T>C
ENST00000602780.2:n.975T>C
ENST00000602850.5:c.324+7T>C	ENSP00000473595.2:n.324+7T>C
ENST00000602850.6:c.*273+7T>C	ENSP00000473595.3:n.*273+7T>C
ENST00000602860.5:n.789T>C
ENST00000602860.6:n.1271T>C
ENST00000602945.5:n.563+7T>C
ENST00000602945.6:n.635+7T>C
ENST00000620338.4:c.751+7T>C	ENSP00000483117.1:n.751+7T>C
ENST00000620761.4:c.493+7T>C	ENSP00000478084.1:n.493+7T>C
ENST00000695641.1:n.1268T>C
ENST00000695648.1:c.475+7T>C	ENSP00000512081.1:n.475+7T>C
ENST00000695649.1:n.1344T>C
ENST00000695650.1:c.*255+7T>C	ENSP00000512082.1:n.*255+7T>C
ENST00000695656.1:n.798T>C
ENST00000695657.1:n.756T>C
ENST00000695658.1:c.493+7T>C	ENSP00000512088.1:n.493+7T>C
ENST00000695659.1:c.493+7T>C	ENSP00000512089.1:n.493+7T>C
ENST00000695660.1:n.864T>C
ENST00000695661.1:c.405-143T>C	ENSP00000512090.1:n.405-143T>C
ENST00000695662.1:c.414-143T>C	ENSP00000512091.1:n.414-143T>C
ENST00000695694.1:c.448+7T>C	ENSP00000512105.1:n.448+7T>C
ENST00000695695.1:n.560-143T>C
ENST00000695696.1:n.732T>C
ENST00000695697.1:c.493+7T>C	ENSP00000512106.1:n.493+7T>C
ENST00000695698.1:n.743+7T>C
ENST00000695699.1:n.639T>C
ENST00000695700.1:n.716T>C
ENST00000695701.1:n.734T>C
ENST00000695702.1:n.466T>C
ENST00000695709.1:n.3T>C
ENST00000695710.1:n.604T>C
ENST00000695711.1:c.493+7T>C	ENSP00000512109.1:n.493+7T>C
ENST00000695712.1:c.*243+7T>C	ENSP00000512110.1:n.*243+7T>C
ENST00000695713.1:c.123-143T>C	ENSP00000512111.1:n.123-143T>C
ENST00000695732.1:c.493+7T>C	ENSP00000512125.1:n.493+7T>C
ENST00000695733.1:c.493+7T>C	ENSP00000512126.1:n.493+7T>C
ENST00000695734.1:c.493+7T>C	ENSP00000512127.1:n.493+7T>C
ENST00000695736.1:c.157+7T>C	ENSP00000512129.1:n.157+7T>C
XM_005256115.2:c.751+7T>C	XP_005256172.1:n.751+7T>C
XM_005256115.4:c.751+7T>C	XP_005256172.1:n.751+7T>C
XR_429727.2:n.1088+7T>C
XR_429727.3:n.1101+7T>C
XR_429728.2:n.1088+7T>C
XR_429728.3:n.1105+7T>C