Canonical Allele Identifier: CA514983748

Gene: ALG12

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49909987G>A , CM000684.2:g.49909987G>A	GRCh38
NC_000022.10:g.50303635G>A , CM000684.1:g.50303635G>A	GRCh37
NC_000022.9:g.48689639G>A	NCBI36
NG_008927.1:g.13472C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024105.4:c.571C>T MANE Select	NP_077010.1:p.Leu191=
ENST00000330817.11:c.571C>T MANE Select	ENSP00000333813.5:p.Leu191=
NM_024105.3:c.571C>T	NP_077010.1:p.Leu191=
ENST00000330817.10:c.571C>T	ENSP00000333813.5:p.Leu191=
ENST00000492791.1:c.102C>T
XM_011530369.1:c.571C>T	XP_011528671.1:p.Leu191=
XM_011530370.1:c.571C>T	XP_011528672.1:p.Leu191=
XM_011530371.1:c.571C>T	XP_011528673.1:p.Leu191=
XM_011530371.2:c.571C>T	XP_011528673.1:p.Leu191=
XM_017028936.1:c.571C>T	XP_016884425.1:p.Leu191=
XM_017028937.1:c.571C>T	XP_016884426.1:p.Leu191=