Canonical Allele Identifier: CA8114852

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67660229C>G , CM000678.2:g.67660229C>G	GRCh38
NC_000016.9:g.67694132C>G , CM000678.1:g.67694132C>G	GRCh37
NC_000016.8:g.66251633C>G	NCBI36
NG_042874.1:g.5587G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.-9G>C MANE Select	NP_001075955.2:n.-9G>C
ENST00000620761.6:c.-9G>C MANE Select	ENSP00000478084.1:n.-9G>C
NM_001082486.1:c.250G>C	NP_001075955.1:p.Ala84Pro
NM_001082487.1:c.250G>C	NP_001075956.1:p.Ala84Pro
NM_022914.2:c.250G>C	NP_075065.2:p.Ala84Pro
NM_022914.3:c.-9G>C	NP_075065.3:n.-9G>C
ENST00000219251.12:c.250G>C	ENSP00000219251.7:p.Ala84Pro
ENST00000219251.13:c.-9G>C	ENSP00000219251.8:n.-9G>C
ENST00000393919.8:c.250G>C	ENSP00000377496.4:p.Ala84Pro
ENST00000602320.1:c.-9G>C	ENSP00000473679.2:n.-9G>C
ENST00000602382.6:c.-9G>C	ENSP00000473313.2:n.-9G>C
ENST00000602423.1:n.36G>C
ENST00000602519.1:n.4G>C
ENST00000602519.2:n.17G>C
ENST00000602622.5:n.43G>C
ENST00000602780.1:n.75G>C
ENST00000602780.2:n.75G>C
ENST00000602821.1:n.43G>C
ENST00000602850.6:c.-9G>C	ENSP00000473595.3:n.-9G>C
ENST00000602860.5:n.53G>C
ENST00000602860.6:n.535G>C
ENST00000602945.6:n.58G>C
ENST00000620338.4:c.250G>C	ENSP00000483117.1:p.Ala84Pro
ENST00000620761.4:c.-9G>C	ENSP00000478084.1:n.-9G>C
ENST00000695641.1:n.532G>C
ENST00000695648.1:c.-9G>C	ENSP00000512081.1:n.-9G>C
ENST00000695649.1:n.532G>C
ENST00000695650.1:c.-9G>C	ENSP00000512082.1:n.-9G>C
ENST00000695656.1:n.62G>C
ENST00000695657.1:n.20G>C
ENST00000695658.1:c.-9G>C	ENSP00000512088.1:n.-9G>C
ENST00000695659.1:c.-9G>C	ENSP00000512089.1:n.-9G>C
ENST00000695660.1:n.52G>C
ENST00000695662.1:c.-9G>C	ENSP00000512091.1:n.-9G>C
ENST00000695663.1:n.48G>C
ENST00000695694.1:c.-9G>C	ENSP00000512105.1:n.-9G>C
ENST00000695695.1:n.62G>C
ENST00000695697.1:c.-9G>C	ENSP00000512106.1:n.-9G>C
ENST00000695698.1:n.14G>C
ENST00000695699.1:n.20G>C
ENST00000695711.1:c.-9G>C	ENSP00000512109.1:n.-9G>C
ENST00000695732.1:c.-9G>C	ENSP00000512125.1:n.-9G>C
ENST00000695733.1:c.-9G>C	ENSP00000512126.1:n.-9G>C
ENST00000695734.1:c.-9G>C	ENSP00000512127.1:n.-9G>C
XM_005256115.2:c.250G>C	XP_005256172.1:p.Ala84Pro
XM_005256115.4:c.250G>C	XP_005256172.1:p.Ala84Pro
XR_429727.2:n.587G>C
XR_429727.3:n.600G>C
XR_429728.2:n.587G>C
XR_429728.3:n.604G>C