Canonical Allele Identifier: CA412080587
Gene: ALG12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913609C>A , CM000684.2:g.49913609C>A GRCh38
NC_000022.10:g.50307257C>A , CM000684.1:g.50307257C>A GRCh37
NC_000022.9:g.48693261C>A NCBI36
NG_008927.1:g.9850G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000330817.11:c.157G>T MANE Select ENSP00000333813.5:p.Glu53Ter
ENST00000330817.10:c.157G>T ENSP00000333813.5:p.Glu53Ter
NM_024105.3:c.157G>T NP_077010.1:p.Glu53Ter
XM_011530369.1:c.157G>T XP_011528671.1:p.Glu53Ter
XM_011530370.1:c.157G>T XP_011528672.1:p.Glu53Ter
XM_011530371.1:c.157G>T XP_011528673.1:p.Glu53Ter
XM_011530371.2:c.157G>T XP_011528673.1:p.Glu53Ter
XM_017028936.1:c.157G>T XP_016884425.1:p.Glu53Ter
XM_017028937.1:c.157G>T XP_016884426.1:p.Glu53Ter
NM_024105.4:c.157G>T MANE Select NP_077010.1:p.Glu53Ter