Canonical Allele Identifier: CA8114946
Community Standard Title: NC_000016.10:g.67660436C>T
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67660436C>T , CM000678.2:g.67660436C>T GRCh38
NC_000016.9:g.67694339C>T , CM000678.1:g.67694339C>T GRCh37
NC_000016.8:g.66251840C>T NCBI36
NG_042874.1:g.5380G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.1:c.43G>A NP_001075955.1:p.Gly15Arg
NM_001082487.1:c.43G>A NP_001075956.1:p.Gly15Arg
NM_022914.2:c.43G>A NP_075065.2:p.Gly15Arg
ENST00000219251.12:c.43G>A ENSP00000219251.7:p.Gly15Arg
ENST00000219251.13:c.-216G>A ENSP00000219251.8:n.-216G>A
ENST00000393919.8:c.43G>A ENSP00000377496.4:p.Gly15Arg
ENST00000602382.6:c.-216G>A ENSP00000473313.2:n.-216G>A
ENST00000602860.6:n.328G>A
ENST00000620338.4:c.43G>A ENSP00000483117.1:p.Gly15Arg
ENST00000695641.1:n.325G>A
ENST00000695649.1:n.325G>A
XM_005256115.2:c.43G>A XP_005256172.1:p.Gly15Arg
XM_005256115.4:c.43G>A XP_005256172.1:p.Gly15Arg
XR_429727.2:n.380G>A
XR_429727.3:n.393G>A
XR_429728.2:n.380G>A
XR_429728.3:n.397G>A