Canonical Allele Identifier: CA91448682
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs570834817
gnomAD v3: 4-3256845-G-T
gnomAD v4: 4-3256845-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256845G>T , CM000666.2:g.3256845G>T GRCh38
NC_000004.11:g.3258572G>T , CM000666.1:g.3258572G>T GRCh37
NC_000004.10:g.3228370G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000505599.5:c.729+988G>T ENSP00000425405.1:n.729+988G>T
ENST00000510580.1:c.765+952G>T ENSP00000420966.1:n.765+952G>T
XM_011513464.1:c.729+988G>T XP_011511766.1:n.729+988G>T
XR_924950.1:n.753+988G>T