Canonical Allele Identifier: CA2591399241

Gene: MSANTD1

Linked Data

• dbSNP Id: rs2110324912
• gnomAD v3: 4-3256516-C-T
• gnomAD v4: 4-3256516-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256516C>T , CM000666.2:g.3256516C>T	GRCh38
NC_000004.11:g.3258243C>T , CM000666.1:g.3258243C>T	GRCh37
NC_000004.10:g.3228041C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438480.7:c.*551C>T MANE Select	ENSP00000411584.2:n.*551C>T
ENST00000505599.5:c.729+659C>T	ENSP00000425405.1:n.729+659C>T
ENST00000507492.5:c.*551C>T	ENSP00000423547.1:n.*551C>T
ENST00000510580.1:c.765+623C>T	ENSP00000420966.1:n.765+623C>T
NM_001042690.1:c.*551C>T	NP_001036155.1:n.*551C>T
XM_006713883.2:c.*551C>T	XP_006713946.1:n.*551C>T
XM_011513464.1:c.729+659C>T	XP_011511766.1:n.729+659C>T
XM_011513465.1:c.*551C>T	XP_011511767.1:n.*551C>T
XM_011513466.1:c.*551C>T	XP_011511768.1:n.*551C>T
XM_011513467.1:c.*551C>T	XP_011511769.1:n.*551C>T
XR_924950.1:n.753+659C>T
NM_001330620.1:c.*551C>T	NP_001317549.1:n.*551C>T
XM_011513466.3:c.*551C>T	XP_011511768.1:n.*551C>T
XM_011513467.3:c.*551C>T	XP_011511769.1:n.*551C>T
NM_001042690.2:c.*551C>T MANE Select	NP_001036155.1:n.*551C>T
NM_001330620.2:c.*551C>T	NP_001317549.1:n.*551C>T