Allele Registry

Canonical Allele Identifier: CA1236480

Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr1:g.169733631C>A

GRCh37 chr1:g.169702772C>A

Linked Data - Sequence & Population

gnomAD v2:

1:169702772 C / A

gnomAD v3:

1:169733631 C / A

gnomAD v4:

chr1-169733631-C-A

Joint Max Group AF 0.10734105 (MID)

Genomes Max Group AF 0.10411117 (NFE)

Exomes Max Group AF 0.10744045 (MID)

Linked Data - NCBI & NCI

dbSNP:

1805193

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169733631C>A , CM000663.2:g.169733631C>A	GRCh38
NC_000001.10:g.169702772C>A , CM000663.1:g.169702772C>A	GRCh37
NC_000001.9:g.167969396C>A	NCBI36
NG_012124.1:g.5449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.-19G>T (SELE) MANE Select	ENSP00000331736.7:n.-19G>T
ENST00000333360.11:c.-19G>T (SELE)	ENSP00000331736.7:n.-19G>T
ENST00000367774.1:c.-19G>T (SELE)	ENSP00000356748.1:n.-19G>T
ENST00000367775.5:c.-19G>T (SELE)	ENSP00000356749.1:n.-19G>T
ENST00000367776.5:c.-19G>T (SELE)	ENSP00000356750.1:n.-19G>T
ENST00000367777.5:c.-19G>T (SELE)	ENSP00000356751.1:n.-19G>T
ENST00000498289.5:n.851+49699C>A (FIRRM)
ENST00000609271.1:c.-19G>T (SELE)	ENSP00000476784.1:n.-19G>T
NM_000450.2:c.-19G>T (SELE) MANE Select	NP_000441.2:n.-19G>T

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