Canonical Allele Identifier: CA8114912
Community Standard Title: NC_000016.10:g.67660382G>A
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67660382G>A , CM000678.2:g.67660382G>A GRCh38
NC_000016.9:g.67694285G>A , CM000678.1:g.67694285G>A GRCh37
NC_000016.8:g.66251786G>A NCBI36
NG_042874.1:g.5434C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.1:c.97C>T NP_001075955.1:p.Pro33Ser
NM_001082487.1:c.97C>T NP_001075956.1:p.Pro33Ser
NM_022914.2:c.97C>T NP_075065.2:p.Pro33Ser
ENST00000219251.12:c.97C>T ENSP00000219251.7:p.Pro33Ser
ENST00000219251.13:c.-162C>T ENSP00000219251.8:n.-162C>T
ENST00000393919.8:c.97C>T ENSP00000377496.4:p.Pro33Ser
ENST00000602382.6:c.-162C>T ENSP00000473313.2:n.-162C>T
ENST00000602860.6:n.382C>T
ENST00000620338.4:c.97C>T ENSP00000483117.1:p.Pro33Ser
ENST00000695641.1:n.379C>T
ENST00000695649.1:n.379C>T
XM_005256115.2:c.97C>T XP_005256172.1:p.Pro33Ser
XM_005256115.4:c.97C>T XP_005256172.1:p.Pro33Ser
XR_429727.2:n.434C>T
XR_429727.3:n.447C>T
XR_429728.2:n.434C>T
XR_429728.3:n.451C>T