Canonical Allele Identifier: CA2669711114

Gene: MSANTD1

Linked Data

• gnomAD v4: 4-3256484-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256484C>A , CM000666.2:g.3256484C>A	GRCh38
NC_000004.11:g.3258211C>A , CM000666.1:g.3258211C>A	GRCh37
NC_000004.10:g.3228009C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438480.7:c.*519C>A MANE Select	ENSP00000411584.2:n.*519C>A
ENST00000505599.5:c.729+627C>A	ENSP00000425405.1:n.729+627C>A
ENST00000507492.5:c.*519C>A	ENSP00000423547.1:n.*519C>A
ENST00000510580.1:c.765+591C>A	ENSP00000420966.1:n.765+591C>A
NM_001042690.1:c.*519C>A	NP_001036155.1:n.*519C>A
XM_006713883.2:c.*519C>A	XP_006713946.1:n.*519C>A
XM_011513464.1:c.729+627C>A	XP_011511766.1:n.729+627C>A
XM_011513465.1:c.*519C>A	XP_011511767.1:n.*519C>A
XM_011513466.1:c.*519C>A	XP_011511768.1:n.*519C>A
XM_011513467.1:c.*519C>A	XP_011511769.1:n.*519C>A
XR_924950.1:n.753+627C>A
NM_001330620.1:c.*519C>A	NP_001317549.1:n.*519C>A
XM_011513466.3:c.*519C>A	XP_011511768.1:n.*519C>A
XM_011513467.3:c.*519C>A	XP_011511769.1:n.*519C>A
NM_001042690.2:c.*519C>A MANE Select	NP_001036155.1:n.*519C>A
NM_001330620.2:c.*519C>A	NP_001317549.1:n.*519C>A