Canonical Allele Identifier: CA2612220785
Gene: SMPD1 HGNC NCBI

Linked Data

gnomAD v4: 11-6390391-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390391C>A , CM000673.2:g.6390391C>A GRCh38
NC_000011.9:g.6411621C>A , CM000673.1:g.6411621C>A GRCh37
NC_000011.8:g.6368197C>A NCBI36
NG_011780.1:g.4967C>A

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-208C>A XP_005253132.1:n.-208C>A
XM_011520303.1:c.-208C>A XP_011518605.1:n.-208C>A
XM_011520304.1:c.-208C>A XP_011518606.1:n.-208C>A
XR_930886.1:n.91C>A
Search 100 bp 5'
Search 100 bp 3'