Canonical Allele Identifier: CA412079512
Gene: ALG12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50307057A>T (hg19) chr22:g.49913409A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913409A>T , CM000684.2:g.49913409A>T GRCh38
NC_000022.10:g.50307057A>T , CM000684.1:g.50307057A>T GRCh37
NC_000022.9:g.48693061A>T NCBI36
NG_008927.1:g.10050T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.271T>A MANE Select ENSP00000333813.5:p.Ser91Thr
ENST00000330817.10:c.271T>A ENSP00000333813.5:p.Ser91Thr
NM_024105.3:c.271T>A NP_077010.1:p.Ser91Thr
XM_011530369.1:c.271T>A XP_011528671.1:p.Ser91Thr
XM_011530370.1:c.271T>A XP_011528672.1:p.Ser91Thr
XM_011530371.1:c.271T>A XP_011528673.1:p.Ser91Thr
XM_011530371.2:c.271T>A XP_011528673.1:p.Ser91Thr
XM_017028936.1:c.271T>A XP_016884425.1:p.Ser91Thr
XM_017028937.1:c.271T>A XP_016884426.1:p.Ser91Thr
NM_024105.4:c.271T>A MANE Select NP_077010.1:p.Ser91Thr
Search 100 bp 5'
Search 100 bp 3'