Canonical Allele Identifier: CA1058634190
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs914894676
gnomAD v3: 4-3256615-A-C
gnomAD v4: 4-3256615-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256615A>C , CM000666.2:g.3256615A>C GRCh38
NC_000004.11:g.3258342A>C , CM000666.1:g.3258342A>C GRCh37
NC_000004.10:g.3228140A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000505599.5:c.729+758A>C ENSP00000425405.1:n.729+758A>C
ENST00000510580.1:c.765+722A>C ENSP00000420966.1:n.765+722A>C
NM_001042690.1:c.*650A>C NP_001036155.1:n.*650A>C
XM_011513464.1:c.729+758A>C XP_011511766.1:n.729+758A>C
XR_924950.1:n.753+758A>C