Canonical Allele Identifier: CA91448526
Gene: MSANTD1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256655G>C , CM000666.2:g.3256655G>C GRCh38
NC_000004.11:g.3258382G>C , CM000666.1:g.3258382G>C GRCh37
NC_000004.10:g.3228180G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000505599.5:c.729+798G>C ENSP00000425405.1:n.729+798G>C
ENST00000510580.1:c.765+762G>C ENSP00000420966.1:n.765+762G>C
XM_011513464.1:c.729+798G>C XP_011511766.1:n.729+798G>C
XR_924950.1:n.753+798G>C