Canonical Allele Identifier: CA2669711090

Gene: MSANTD1

Linked Data

• gnomAD v4: 4-3256454-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256454C>A , CM000666.2:g.3256454C>A	GRCh38
NC_000004.11:g.3258181C>A , CM000666.1:g.3258181C>A	GRCh37
NC_000004.10:g.3227979C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438480.7:c.*489C>A MANE Select	ENSP00000411584.2:n.*489C>A
ENST00000505599.5:c.729+597C>A	ENSP00000425405.1:n.729+597C>A
ENST00000507492.5:c.*489C>A	ENSP00000423547.1:n.*489C>A
ENST00000510580.1:c.765+561C>A	ENSP00000420966.1:n.765+561C>A
NM_001042690.1:c.*489C>A	NP_001036155.1:n.*489C>A
XM_006713883.2:c.*489C>A	XP_006713946.1:n.*489C>A
XM_011513464.1:c.729+597C>A	XP_011511766.1:n.729+597C>A
XM_011513465.1:c.*489C>A	XP_011511767.1:n.*489C>A
XM_011513466.1:c.*489C>A	XP_011511768.1:n.*489C>A
XM_011513467.1:c.*489C>A	XP_011511769.1:n.*489C>A
XR_924950.1:n.753+597C>A
NM_001330620.1:c.*489C>A	NP_001317549.1:n.*489C>A
XM_011513466.3:c.*489C>A	XP_011511768.1:n.*489C>A
XM_011513467.3:c.*489C>A	XP_011511769.1:n.*489C>A
NM_001042690.2:c.*489C>A MANE Select	NP_001036155.1:n.*489C>A
NM_001330620.2:c.*489C>A	NP_001317549.1:n.*489C>A