Canonical Allele Identifier: CA1058634186
Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs1722402717
gnomAD v3: 4-3256601-C-G
gnomAD v4: 4-3256601-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3256601C>G , CM000666.2:g.3256601C>G GRCh38
NC_000004.11:g.3258328C>G , CM000666.1:g.3258328C>G GRCh37
NC_000004.10:g.3228126C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438480.7:c.*636C>G MANE Select ENSP00000411584.2:n.*636C>G
ENST00000505599.5:c.729+744C>G ENSP00000425405.1:n.729+744C>G
ENST00000507492.5:c.*636C>G ENSP00000423547.1:n.*636C>G
ENST00000510580.1:c.765+708C>G ENSP00000420966.1:n.765+708C>G
NM_001042690.1:c.*636C>G NP_001036155.1:n.*636C>G
XM_006713883.2:c.*636C>G XP_006713946.1:n.*636C>G
XM_011513464.1:c.729+744C>G XP_011511766.1:n.729+744C>G
XM_011513465.1:c.*636C>G XP_011511767.1:n.*636C>G
XM_011513466.1:c.*636C>G XP_011511768.1:n.*636C>G
XM_011513467.1:c.*636C>G XP_011511769.1:n.*636C>G
XR_924950.1:n.753+744C>G
NM_001330620.1:c.*636C>G NP_001317549.1:n.*636C>G
XM_011513466.3:c.*636C>G XP_011511768.1:n.*636C>G
XM_011513467.3:c.*636C>G XP_011511769.1:n.*636C>G
NM_001042690.2:c.*636C>G MANE Select NP_001036155.1:n.*636C>G
NM_001330620.2:c.*636C>G NP_001317549.1:n.*636C>G