Canonical Allele Identifier: CA10610600

Gene: ALG6

Linked Data

• ClinVar Variation Id: 297842
• ClinVar RCV Id: RCV000356606 ; RCV000421953 ; RCV003897678
• dbSNP Id: rs183861757
• gnomAD v2: 1-63836430-T-C
• gnomAD v3: 1-63370759-T-C
• gnomAD v4: 1-63370759-T-C
• MyVariant Identifiers: chr1:g.63836430T>C (hg19) ; chr1:g.63370759T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63370759T>C , CM000663.2:g.63370759T>C	GRCh38
NC_000001.10:g.63836430T>C , CM000663.1:g.63836430T>C	GRCh37
NC_000001.9:g.63609018T>C	NCBI36
NG_008925.2:g.8170T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.-207-12T>C MANE Select	ENSP00000263440.5:n.-207-12T>C
ENST00000603108.6:c.-207-12T>C	ENSP00000473934.2:n.-207-12T>C
ENST00000647818.1:c.-207-12T>C	ENSP00000497667.1:n.-207-12T>C
ENST00000648964.1:c.-207-12T>C	ENSP00000497828.1:n.-207-12T>C
ENST00000649570.1:c.-207-12T>C	ENSP00000497742.1:n.-207-12T>C
ENST00000650331.1:n.455-12T>C
ENST00000650469.1:n.62-12T>C
ENST00000650494.1:c.-207-12T>C	ENSP00000497170.1:n.-207-12T>C
ENST00000371108.8:c.-207-12T>C	ENSP00000360149.4:n.-207-12T>C
ENST00000487136.2:c.-207-12T>C	ENSP00000473328.1:n.-207-12T>C
NM_013339.3:c.-207-12T>C	NP_037471.2:n.-207-12T>C
NM_013339.4:c.-207-12T>C MANE Select	NP_037471.2:n.-207-12T>C