Canonical Allele Identifier: CA8114463

Gene: ACD

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67658179C>T , CM000678.2:g.67658179C>T	GRCh38
NC_000016.9:g.67692082C>T , CM000678.1:g.67692082C>T	GRCh37
NC_000016.8:g.66249583C>T	NCBI36
NG_042874.1:g.7637G>A
NG_054728.1:g.18261C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001082486.2:c.1013G>A MANE Select	NP_001075955.2:p.Ser338Asn
ENST00000620761.6:c.1013G>A MANE Select	ENSP00000478084.1:p.Ser338Asn
NM_001082486.1:c.1271G>A	NP_001075955.1:p.Ser424Asn
NM_001082487.1:c.1262G>A	NP_001075956.1:p.Ser421Asn
NM_022914.2:c.1262G>A	NP_075065.2:p.Ser421Asn
NM_022914.3:c.1004G>A	NP_075065.3:p.Ser335Asn
ENST00000219251.12:c.1262G>A	ENSP00000219251.7:p.Ser421Asn
ENST00000219251.13:c.1004G>A	ENSP00000219251.8:p.Ser335Asn
ENST00000393919.8:c.1271G>A	ENSP00000377496.4:p.Ser424Asn
ENST00000602320.1:c.1004G>A	ENSP00000473679.2:p.Ser335Asn
ENST00000602382.5:c.372-151G>A
ENST00000602382.6:c.830-151G>A	ENSP00000473313.2:n.830-151G>A
ENST00000602622.5:n.2012G>A
ENST00000602656.1:n.145G>A
ENST00000602780.2:n.2018G>A
ENST00000602850.5:c.844G>A	ENSP00000473595.2:n.844G>A
ENST00000602850.6:c.*793G>A	ENSP00000473595.3:n.*793G>A
ENST00000602860.5:n.1451G>A
ENST00000602860.6:n.1933G>A
ENST00000620338.4:c.1271G>A	ENSP00000483117.1:p.Ser424Asn
ENST00000620761.4:c.1013G>A	ENSP00000478084.1:p.Ser338Asn
ENST00000695641.1:n.2122G>A
ENST00000695648.1:c.995G>A	ENSP00000512081.1:p.Ser332Asn
ENST00000695656.1:n.1841G>A
ENST00000695657.1:n.1331G>A
ENST00000695658.1:c.986+27G>A	ENSP00000512088.1:n.986+27G>A
ENST00000695659.1:c.1013G>A	ENSP00000512089.1:p.Ser338Asn
ENST00000695660.1:n.1637G>A
ENST00000695662.1:c.*492G>A	ENSP00000512091.1:n.*492G>A
ENST00000695694.1:c.968G>A	ENSP00000512105.1:p.Ser323Asn
ENST00000695695.1:n.1079G>A
ENST00000695696.1:n.1211-151G>A
ENST00000695697.1:c.926G>A	ENSP00000512106.1:p.Ser309Asn
ENST00000695698.1:n.1263G>A
ENST00000695699.1:n.1301G>A
ENST00000695700.1:n.1570G>A
ENST00000695709.1:n.482-326G>A
ENST00000695710.1:n.1647G>A
ENST00000695711.1:c.*321G>A	ENSP00000512109.1:n.*321G>A
ENST00000695712.1:c.*763G>A	ENSP00000512110.1:n.*763G>A
ENST00000695731.1:c.336G>A
ENST00000695732.1:c.646-326G>A	ENSP00000512125.1:n.646-326G>A
ENST00000695733.1:c.743-151G>A	ENSP00000512126.1:n.743-151G>A
ENST00000695734.1:c.1013G>A	ENSP00000512127.1:p.Ser338Asn
ENST00000695735.1:n.423G>A
XM_005256115.2:c.1184G>A	XP_005256172.1:p.Ser395Asn
XM_005256115.4:c.1184G>A	XP_005256172.1:p.Ser395Asn
XR_429727.2:n.1624G>A
XR_429727.3:n.1637G>A