Canonical Allele Identifier: CA794017847

Gene: MSANTD1

Linked Data

• dbSNP Id: rs1246790047
• gnomAD v2: 4-3258245-A-G
• gnomAD v3: 4-3256518-A-G
• gnomAD v4: 4-3256518-A-G
• MyVariant Identifiers: chr4:g.3258245A>G (hg19) ; chr4:g.3256518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256518A>G , CM000666.2:g.3256518A>G	GRCh38
NC_000004.11:g.3258245A>G , CM000666.1:g.3258245A>G	GRCh37
NC_000004.10:g.3228043A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438480.7:c.*553A>G MANE Select	ENSP00000411584.2:n.*553A>G
ENST00000505599.5:c.729+661A>G	ENSP00000425405.1:n.729+661A>G
ENST00000507492.5:c.*553A>G	ENSP00000423547.1:n.*553A>G
ENST00000510580.1:c.765+625A>G	ENSP00000420966.1:n.765+625A>G
NM_001042690.1:c.*553A>G	NP_001036155.1:n.*553A>G
XM_006713883.2:c.*553A>G	XP_006713946.1:n.*553A>G
XM_011513464.1:c.729+661A>G	XP_011511766.1:n.729+661A>G
XM_011513465.1:c.*553A>G	XP_011511767.1:n.*553A>G
XM_011513466.1:c.*553A>G	XP_011511768.1:n.*553A>G
XM_011513467.1:c.*553A>G	XP_011511769.1:n.*553A>G
XR_924950.1:n.753+661A>G
NM_001330620.1:c.*553A>G	NP_001317549.1:n.*553A>G
XM_011513466.3:c.*553A>G	XP_011511768.1:n.*553A>G
XM_011513467.3:c.*553A>G	XP_011511769.1:n.*553A>G
NM_001042690.2:c.*553A>G MANE Select	NP_001036155.1:n.*553A>G
NM_001330620.2:c.*553A>G	NP_001317549.1:n.*553A>G