Canonical Allele Identifier: CA91448477
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs362285
gnomAD v2: 4-3258321-G-A
gnomAD v3: 4-3256594-G-A
gnomAD v4: 4-3256594-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256594G>A , CM000666.2:g.3256594G>A GRCh38
NC_000004.11:g.3258321G>A , CM000666.1:g.3258321G>A GRCh37
NC_000004.10:g.3228119G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438480.7:c.*629G>A MANE Select ENSP00000411584.2:n.*629G>A
ENST00000505599.5:c.729+737G>A ENSP00000425405.1:n.729+737G>A
ENST00000507492.5:c.*629G>A ENSP00000423547.1:n.*629G>A
ENST00000510580.1:c.765+701G>A ENSP00000420966.1:n.765+701G>A
NM_001042690.1:c.*629G>A NP_001036155.1:n.*629G>A
XM_006713883.2:c.*629G>A XP_006713946.1:n.*629G>A
XM_011513464.1:c.729+737G>A XP_011511766.1:n.729+737G>A
XM_011513465.1:c.*629G>A XP_011511767.1:n.*629G>A
XM_011513466.1:c.*629G>A XP_011511768.1:n.*629G>A
XM_011513467.1:c.*629G>A XP_011511769.1:n.*629G>A
XR_924950.1:n.753+737G>A
NM_001330620.1:c.*629G>A NP_001317549.1:n.*629G>A
XM_011513466.3:c.*629G>A XP_011511768.1:n.*629G>A
XM_011513467.3:c.*629G>A XP_011511769.1:n.*629G>A
NM_001042690.2:c.*629G>A MANE Select NP_001036155.1:n.*629G>A
NM_001330620.2:c.*629G>A NP_001317549.1:n.*629G>A