Canonical Allele Identifier: CA91448451
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs554512596
gnomAD v3: 4-3256579-A-G
gnomAD v4: 4-3256579-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256579A>G , CM000666.2:g.3256579A>G GRCh38
NC_000004.11:g.3258306A>G , CM000666.1:g.3258306A>G GRCh37
NC_000004.10:g.3228104A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438480.7:c.*614A>G MANE Select ENSP00000411584.2:n.*614A>G
ENST00000505599.5:c.729+722A>G ENSP00000425405.1:n.729+722A>G
ENST00000507492.5:c.*614A>G ENSP00000423547.1:n.*614A>G
ENST00000510580.1:c.765+686A>G ENSP00000420966.1:n.765+686A>G
NM_001042690.1:c.*614A>G NP_001036155.1:n.*614A>G
XM_006713883.2:c.*614A>G XP_006713946.1:n.*614A>G
XM_011513464.1:c.729+722A>G XP_011511766.1:n.729+722A>G
XM_011513465.1:c.*614A>G XP_011511767.1:n.*614A>G
XM_011513466.1:c.*614A>G XP_011511768.1:n.*614A>G
XM_011513467.1:c.*614A>G XP_011511769.1:n.*614A>G
XR_924950.1:n.753+722A>G
NM_001330620.1:c.*614A>G NP_001317549.1:n.*614A>G
XM_011513466.3:c.*614A>G XP_011511768.1:n.*614A>G
XM_011513467.3:c.*614A>G XP_011511769.1:n.*614A>G
NM_001042690.2:c.*614A>G MANE Select NP_001036155.1:n.*614A>G
NM_001330620.2:c.*614A>G NP_001317549.1:n.*614A>G