Canonical Allele Identifier: CA412072099

Gene: ALG12

Linked Data

• MyVariant Identifiers: chr22:g.50297882C>A (hg19) ; chr22:g.49904234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49904234C>A , CM000684.2:g.49904234C>A	GRCh38
NC_000022.10:g.50297882C>A , CM000684.1:g.50297882C>A	GRCh37
NC_000022.9:g.48683886C>A	NCBI36
NG_008927.1:g.19225G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.1183G>T MANE Select	ENSP00000333813.5:p.Val395Leu
ENST00000330817.10:c.1183G>T	ENSP00000333813.5:p.Val395Leu
ENST00000486602.1:c.389G>T
ENST00000492791.1:c.592G>T
NM_024105.3:c.1183G>T	NP_077010.1:p.Val395Leu
XM_011530369.1:c.1183G>T	XP_011528671.1:p.Val395Leu
XM_011530370.1:c.1183G>T	XP_011528672.1:p.Val395Leu
XM_011530371.1:c.*2G>T	XP_011528673.1:n.*2G>T
XM_011530371.2:c.*2G>T	XP_011528673.1:n.*2G>T
XM_017028936.1:c.1183G>T	XP_016884425.1:p.Val395Leu
XM_017028937.1:c.1183G>T	XP_016884426.1:p.Val395Leu
NM_024105.4:c.1183G>T MANE Select	NP_077010.1:p.Val395Leu