Canonical Allele Identifier: CA91448357

Gene: MSANTD1

Linked Data

• dbSNP Id: rs906019986
• gnomAD v2: 4-3258184-G-C
• gnomAD v3: 4-3256457-G-C
• gnomAD v4: 4-3256457-G-C
• MyVariant Identifiers: chr4:g.3258184G>C (hg19) ; chr4:g.3256457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256457G>C , CM000666.2:g.3256457G>C	GRCh38
NC_000004.11:g.3258184G>C , CM000666.1:g.3258184G>C	GRCh37
NC_000004.10:g.3227982G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438480.7:c.*492G>C MANE Select	ENSP00000411584.2:n.*492G>C
ENST00000505599.5:c.729+600G>C	ENSP00000425405.1:n.729+600G>C
ENST00000507492.5:c.*492G>C	ENSP00000423547.1:n.*492G>C
ENST00000510580.1:c.765+564G>C	ENSP00000420966.1:n.765+564G>C
NM_001042690.1:c.*492G>C	NP_001036155.1:n.*492G>C
XM_006713883.2:c.*492G>C	XP_006713946.1:n.*492G>C
XM_011513464.1:c.729+600G>C	XP_011511766.1:n.729+600G>C
XM_011513465.1:c.*492G>C	XP_011511767.1:n.*492G>C
XM_011513466.1:c.*492G>C	XP_011511768.1:n.*492G>C
XM_011513467.1:c.*492G>C	XP_011511769.1:n.*492G>C
XR_924950.1:n.753+600G>C
NM_001330620.1:c.*492G>C	NP_001317549.1:n.*492G>C
XM_011513466.3:c.*492G>C	XP_011511768.1:n.*492G>C
XM_011513467.3:c.*492G>C	XP_011511769.1:n.*492G>C
NM_001042690.2:c.*492G>C MANE Select	NP_001036155.1:n.*492G>C
NM_001330620.2:c.*492G>C	NP_001317549.1:n.*492G>C