Canonical Allele Identifier: CA6989756

Gene: ALG11

Linked Data

• ClinVar Variation Id: 312408
• ClinVar RCV Id: RCV000295863 ; RCV002248613 ; RCV003144202
• dbSNP Id: rs201534348
• ExAC: 13:52586532 C / T
• gnomAD v2: 13-52586532-C-T
• gnomAD v3: 13-52012396-C-T
• gnomAD v4: 13-52012396-C-T
• MyVariant Identifiers: chr13:g.52586532C>T (hg19) ; chr13:g.52012396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52012396C>T , CM000675.2:g.52012396C>T	GRCh38
NC_000013.10:g.52586532C>T , CM000675.1:g.52586532C>T	GRCh37
NC_000013.9:g.51484533C>T	NCBI36
NG_008806.1:g.4099G>A
NG_028038.1:g.5010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649708.2:c.-23C>T	ENSP00000497459.2:n.-23C>T
NM_001004127.2:c.-23C>T	NP_001004127.2:n.-23C>T
NR_036571.2:n.10C>T