Canonical Allele Identifier: CA13385037
Gene: SART1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.65979586G>A
GRCh37 chr11:g.65747057G>A
gnomAD v2:
11:65747057 G / A
gnomAD v3:
11:65979586 G / A
gnomAD v4:
chr11-65979586-G-A
Joint Max Group AF 0.33798143 (MID)
Genomes Max Group AF 0.30071332 (SAS)
Exomes Max Group AF 0.31386119 (SAS)
dbSNP:
754532
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65979586G>A , CM000673.2:g.65979586G>A GRCh38
NC_000011.9:g.65747057G>A , CM000673.1:g.65747057G>A GRCh37
NC_000011.8:g.65503633G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312397.10:c.*556G>A MANE Select ENSP00000310448.5:n.*556G>A
ENST00000312397.9:c.*556G>A ENSP00000310448.5:n.*556G>A
NM_005146.4:c.*556G>A NP_005137.1:n.*556G>A
NM_005146.5:c.*556G>A MANE Select NP_005137.1:n.*556G>A
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