Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1058634203

Gene: MSANTD1 HGNC NCBI

Linked Data

dbSNP Id: rs1722403907

gnomAD v3: 4-3256637-G-A

gnomAD v4: 4-3256637-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3256637G>A , CM000666.2:g.3256637G>A	GRCh38
NC_000004.11:g.3258364G>A , CM000666.1:g.3258364G>A	GRCh37
NC_000004.10:g.3228162G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000505599.5:c.729+780G>A	ENSP00000425405.1:n.729+780G>A
ENST00000510580.1:c.765+744G>A	ENSP00000420966.1:n.765+744G>A
XM_011513464.1:c.729+780G>A	XP_011511766.1:n.729+780G>A
XR_924950.1:n.753+780G>A

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