Canonical Allele Identifier: CA794017830
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs1390159596
gnomAD v3: 4-3256478-A-T
gnomAD v4: 4-3256478-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256478A>T , CM000666.2:g.3256478A>T GRCh38
NC_000004.11:g.3258205A>T , CM000666.1:g.3258205A>T GRCh37
NC_000004.10:g.3228003A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000438480.7:c.*513A>T MANE Select ENSP00000411584.2:n.*513A>T
ENST00000505599.5:c.729+621A>T ENSP00000425405.1:n.729+621A>T
ENST00000507492.5:c.*513A>T ENSP00000423547.1:n.*513A>T
ENST00000510580.1:c.765+585A>T ENSP00000420966.1:n.765+585A>T
NM_001042690.1:c.*513A>T NP_001036155.1:n.*513A>T
XM_006713883.2:c.*513A>T XP_006713946.1:n.*513A>T
XM_011513464.1:c.729+621A>T XP_011511766.1:n.729+621A>T
XM_011513465.1:c.*513A>T XP_011511767.1:n.*513A>T
XM_011513466.1:c.*513A>T XP_011511768.1:n.*513A>T
XM_011513467.1:c.*513A>T XP_011511769.1:n.*513A>T
XR_924950.1:n.753+621A>T
NM_001330620.1:c.*513A>T NP_001317549.1:n.*513A>T
XM_011513466.3:c.*513A>T XP_011511768.1:n.*513A>T
XM_011513467.3:c.*513A>T XP_011511769.1:n.*513A>T
NM_001042690.2:c.*513A>T MANE Select NP_001036155.1:n.*513A>T
NM_001330620.2:c.*513A>T NP_001317549.1:n.*513A>T