Canonical Allele Identifier: CA396359771
Community Standard Title: NC_000016.10:g.67660376C>T
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67660376C>T , CM000678.2:g.67660376C>T GRCh38
NC_000016.9:g.67694279C>T , CM000678.1:g.67694279C>T GRCh37
NC_000016.8:g.66251780C>T NCBI36
NG_042874.1:g.5440G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.1:c.103G>A NP_001075955.1:p.Ala35Thr
NM_001082487.1:c.103G>A NP_001075956.1:p.Ala35Thr
NM_022914.2:c.103G>A NP_075065.2:p.Ala35Thr
ENST00000219251.12:c.103G>A ENSP00000219251.7:p.Ala35Thr
ENST00000219251.13:c.-156G>A ENSP00000219251.8:n.-156G>A
ENST00000393919.8:c.103G>A ENSP00000377496.4:p.Ala35Thr
ENST00000602382.6:c.-156G>A ENSP00000473313.2:n.-156G>A
ENST00000602860.6:n.388G>A
ENST00000620338.4:c.103G>A ENSP00000483117.1:p.Ala35Thr
ENST00000695641.1:n.385G>A
ENST00000695649.1:n.385G>A
XM_005256115.2:c.103G>A XP_005256172.1:p.Ala35Thr
XM_005256115.4:c.103G>A XP_005256172.1:p.Ala35Thr
XR_429727.2:n.440G>A
XR_429727.3:n.453G>A
XR_429728.2:n.440G>A
XR_429728.3:n.457G>A