Canonical Allele Identifier: CA412080439

Gene: ALG12

Linked Data

• gnomAD v4: 22-49913519-T-G
• MyVariant Identifiers: chr22:g.50307167T>G (hg19) ; chr22:g.49913519T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913519T>G , CM000684.2:g.49913519T>G	GRCh38
NC_000022.10:g.50307167T>G , CM000684.1:g.50307167T>G	GRCh37
NC_000022.9:g.48693171T>G	NCBI36
NG_008927.1:g.9940A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.163-2A>C MANE Select	ENSP00000333813.5:n.163-2A>C
ENST00000330817.10:c.163-2A>C	ENSP00000333813.5:n.163-2A>C
NM_024105.3:c.163-2A>C	NP_077010.1:n.163-2A>C
XM_011530369.1:c.163-2A>C	XP_011528671.1:n.163-2A>C
XM_011530370.1:c.163-2A>C	XP_011528672.1:n.163-2A>C
XM_011530371.1:c.163-2A>C	XP_011528673.1:n.163-2A>C
XM_011530371.2:c.163-2A>C	XP_011528673.1:n.163-2A>C
XM_017028936.1:c.163-2A>C	XP_016884425.1:n.163-2A>C
XM_017028937.1:c.163-2A>C	XP_016884426.1:n.163-2A>C
NM_024105.4:c.163-2A>C MANE Select	NP_077010.1:n.163-2A>C