Canonical Allele Identifier: CA549307486
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs1227559046
gnomAD v2: 4-3258415-T-C
gnomAD v3: 4-3256688-T-C
gnomAD v4: 4-3256688-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256688T>C , CM000666.2:g.3256688T>C GRCh38
NC_000004.11:g.3258415T>C , CM000666.1:g.3258415T>C GRCh37
NC_000004.10:g.3228213T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000505599.5:c.729+831T>C ENSP00000425405.1:n.729+831T>C
ENST00000510580.1:c.765+795T>C ENSP00000420966.1:n.765+795T>C
XM_011513464.1:c.729+831T>C XP_011511766.1:n.729+831T>C
XR_924950.1:n.753+831T>C