Canonical Allele Identifier: CA2657449392

Gene: ALG12

Linked Data

• gnomAD v4: 22-49913918-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913918G>A , CM000684.2:g.49913918G>A	GRCh38
NC_000022.10:g.50307566G>A , CM000684.1:g.50307566G>A	GRCh37
NC_000022.9:g.48693570G>A	NCBI36
NG_008927.1:g.9541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.-78-75C>T MANE Select	ENSP00000333813.5:n.-78-75C>T
ENST00000330817.10:c.-78-75C>T	ENSP00000333813.5:n.-78-75C>T
NM_024105.3:c.-78-75C>T	NP_077010.1:n.-78-75C>T
XM_011530369.1:c.-78-75C>T	XP_011528671.1:n.-78-75C>T
XM_011530370.1:c.-78-75C>T	XP_011528672.1:n.-78-75C>T
XM_011530371.1:c.-78-75C>T	XP_011528673.1:n.-78-75C>T
XM_011530371.2:c.-78-75C>T	XP_011528673.1:n.-78-75C>T
XM_017028936.1:c.-78-75C>T	XP_016884425.1:n.-78-75C>T
XM_017028937.1:c.-78-75C>T	XP_016884426.1:n.-78-75C>T
NM_024105.4:c.-78-75C>T MANE Select	NP_077010.1:n.-78-75C>T