Canonical Allele Identifier: CA1058634168
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs1722402421
gnomAD v3: 4-3256593-C-T
gnomAD v4: 4-3256593-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256593C>T , CM000666.2:g.3256593C>T GRCh38
NC_000004.11:g.3258320C>T , CM000666.1:g.3258320C>T GRCh37
NC_000004.10:g.3228118C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438480.7:c.*628C>T MANE Select ENSP00000411584.2:n.*628C>T
ENST00000505599.5:c.729+736C>T ENSP00000425405.1:n.729+736C>T
ENST00000507492.5:c.*628C>T ENSP00000423547.1:n.*628C>T
ENST00000510580.1:c.765+700C>T ENSP00000420966.1:n.765+700C>T
NM_001042690.1:c.*628C>T NP_001036155.1:n.*628C>T
XM_006713883.2:c.*628C>T XP_006713946.1:n.*628C>T
XM_011513464.1:c.729+736C>T XP_011511766.1:n.729+736C>T
XM_011513465.1:c.*628C>T XP_011511767.1:n.*628C>T
XM_011513466.1:c.*628C>T XP_011511768.1:n.*628C>T
XM_011513467.1:c.*628C>T XP_011511769.1:n.*628C>T
XR_924950.1:n.753+736C>T
NM_001330620.1:c.*628C>T NP_001317549.1:n.*628C>T
XM_011513466.3:c.*628C>T XP_011511768.1:n.*628C>T
XM_011513467.3:c.*628C>T XP_011511769.1:n.*628C>T
NM_001042690.2:c.*628C>T MANE Select NP_001036155.1:n.*628C>T
NM_001330620.2:c.*628C>T NP_001317549.1:n.*628C>T