Canonical Allele Identifier: CA91448395

Gene: MSANTD1

Linked Data

• dbSNP Id: rs879696227
• gnomAD v2: 4-3258286-C-A
• gnomAD v3: 4-3256559-C-A
• gnomAD v4: 4-3256559-C-A
• MyVariant Identifiers: chr4:g.3258286C>A (hg19) ; chr4:g.3256559C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256559C>A , CM000666.2:g.3256559C>A	GRCh38
NC_000004.11:g.3258286C>A , CM000666.1:g.3258286C>A	GRCh37
NC_000004.10:g.3228084C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438480.7:c.*594C>A MANE Select	ENSP00000411584.2:n.*594C>A
ENST00000505599.5:c.729+702C>A	ENSP00000425405.1:n.729+702C>A
ENST00000507492.5:c.*594C>A	ENSP00000423547.1:n.*594C>A
ENST00000510580.1:c.765+666C>A	ENSP00000420966.1:n.765+666C>A
NM_001042690.1:c.*594C>A	NP_001036155.1:n.*594C>A
XM_006713883.2:c.*594C>A	XP_006713946.1:n.*594C>A
XM_011513464.1:c.729+702C>A	XP_011511766.1:n.729+702C>A
XM_011513465.1:c.*594C>A	XP_011511767.1:n.*594C>A
XM_011513466.1:c.*594C>A	XP_011511768.1:n.*594C>A
XM_011513467.1:c.*594C>A	XP_011511769.1:n.*594C>A
XR_924950.1:n.753+702C>A
NM_001330620.1:c.*594C>A	NP_001317549.1:n.*594C>A
XM_011513466.3:c.*594C>A	XP_011511768.1:n.*594C>A
XM_011513467.3:c.*594C>A	XP_011511769.1:n.*594C>A
NM_001042690.2:c.*594C>A MANE Select	NP_001036155.1:n.*594C>A
NM_001330620.2:c.*594C>A	NP_001317549.1:n.*594C>A