Canonical Allele Identifier: CA412080271
Gene: ALG12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913502A>G , CM000684.2:g.49913502A>G GRCh38
NC_000022.10:g.50307150A>G , CM000684.1:g.50307150A>G GRCh37
NC_000022.9:g.48693154A>G NCBI36
NG_008927.1:g.9957T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.178T>C MANE Select ENSP00000333813.5:p.Phe60Leu
ENST00000330817.10:c.178T>C ENSP00000333813.5:p.Phe60Leu
NM_024105.3:c.178T>C NP_077010.1:p.Phe60Leu
XM_011530369.1:c.178T>C XP_011528671.1:p.Phe60Leu
XM_011530370.1:c.178T>C XP_011528672.1:p.Phe60Leu
XM_011530371.1:c.178T>C XP_011528673.1:p.Phe60Leu
XM_011530371.2:c.178T>C XP_011528673.1:p.Phe60Leu
XM_017028936.1:c.178T>C XP_016884425.1:p.Phe60Leu
XM_017028937.1:c.178T>C XP_016884426.1:p.Phe60Leu
NM_024105.4:c.178T>C MANE Select NP_077010.1:p.Phe60Leu