Canonical Allele Identifier: CA8114540

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658627G>A , CM000678.2:g.67658627G>A	GRCh38
NC_000016.9:g.67692530G>A , CM000678.1:g.67692530G>A	GRCh37
NC_000016.8:g.66250031G>A	NCBI36
NG_042874.1:g.7189C>T
NG_054728.1:g.18709G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.757C>T MANE Select	NP_001075955.2:p.Pro253Ser
ENST00000620761.6:c.757C>T MANE Select	ENSP00000478084.1:p.Pro253Ser
NM_001082486.1:c.1015C>T	NP_001075955.1:p.Pro339Ser
NM_001082487.1:c.1006C>T	NP_001075956.1:p.Pro336Ser
NM_022914.2:c.1006C>T	NP_075065.2:p.Pro336Ser
NM_022914.3:c.748C>T	NP_075065.3:p.Pro250Ser
ENST00000219251.12:c.1006C>T	ENSP00000219251.7:p.Pro336Ser
ENST00000219251.13:c.748C>T	ENSP00000219251.8:p.Pro250Ser
ENST00000393919.8:c.1015C>T	ENSP00000377496.4:p.Pro339Ser
ENST00000602320.1:c.748C>T	ENSP00000473679.2:p.Pro250Ser
ENST00000602382.5:c.299C>T
ENST00000602382.6:c.757C>T	ENSP00000473313.2:p.Pro253Ser
ENST00000602519.2:n.1247C>T
ENST00000602622.5:n.1564C>T
ENST00000602780.2:n.1570C>T
ENST00000602850.5:c.588C>T	ENSP00000473595.2:n.588C>T
ENST00000602850.6:c.*537C>T	ENSP00000473595.3:n.*537C>T
ENST00000602860.5:n.1195C>T
ENST00000602860.6:n.1677C>T
ENST00000620338.4:c.1015C>T	ENSP00000483117.1:p.Pro339Ser
ENST00000620761.4:c.757C>T	ENSP00000478084.1:p.Pro253Ser
ENST00000695641.1:n.1674C>T
ENST00000695648.1:c.739C>T	ENSP00000512081.1:p.Pro247Ser
ENST00000695649.1:n.1766C>T
ENST00000695656.1:n.1393C>T
ENST00000695657.1:n.1147+93C>T
ENST00000695658.1:c.757C>T	ENSP00000512088.1:p.Pro253Ser
ENST00000695659.1:c.757C>T	ENSP00000512089.1:p.Pro253Ser
ENST00000695660.1:n.1381C>T
ENST00000695661.1:c.*236C>T	ENSP00000512090.1:n.*236C>T
ENST00000695662.1:c.*236C>T	ENSP00000512091.1:n.*236C>T
ENST00000695694.1:c.712C>T	ENSP00000512105.1:p.Pro238Ser
ENST00000695695.1:n.823C>T
ENST00000695696.1:n.1138C>T
ENST00000695697.1:c.742+93C>T	ENSP00000512106.1:n.742+93C>T
ENST00000695698.1:n.1007C>T
ENST00000695699.1:n.1045C>T
ENST00000695700.1:n.1122C>T
ENST00000695701.1:n.1156C>T
ENST00000695702.1:n.983C>T
ENST00000695709.1:n.409C>T
ENST00000695710.1:n.1199C>T
ENST00000695711.1:c.*65C>T	ENSP00000512109.1:n.*65C>T
ENST00000695712.1:c.*507C>T	ENSP00000512110.1:n.*507C>T
ENST00000695731.1:c.153-265C>T
ENST00000695732.1:c.645+301C>T	ENSP00000512125.1:n.645+301C>T
ENST00000695733.1:c.742+93C>T	ENSP00000512126.1:n.742+93C>T
ENST00000695734.1:c.757C>T	ENSP00000512127.1:p.Pro253Ser
ENST00000695735.1:n.167C>T
ENST00000695736.1:c.269C>T	ENSP00000512129.1:n.269C>T
XM_005256115.2:c.1000+93C>T	XP_005256172.1:n.1000+93C>T
XM_005256115.4:c.1000+93C>T	XP_005256172.1:n.1000+93C>T
XR_429727.2:n.1368C>T
XR_429727.3:n.1381C>T
XR_429728.2:n.1353+93C>T
XR_429728.3:n.1370+93C>T