Canonical Allele Identifier: CA12261004
Gene: F13A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.6288009A>G
GRCh37 chr6:g.6288242A>G
gnomAD v2:
6:6288242 A / G
gnomAD v3:
6:6288009 A / G
gnomAD v4:
chr6-6288009-A-G
Joint Max Group AF 0.12941757 (AMR)
Genomes Max Group AF 0.12941757 (AMR)
dbSNP:
12194855
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6288009A>G , CM000668.2:g.6288009A>G GRCh38
NC_000006.11:g.6288242A>G , CM000668.1:g.6288242A>G GRCh37
NC_000006.10:g.6233241A>G NCBI36
NG_008107.1:g.37683T>C , LRG_549:g.37683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.319+17342T>C MANE Select ENSP00000264870.3:n.319+17342T>C
ENST00000264870.7:c.319+17342T>C ENSP00000264870.3:n.319+17342T>C
ENST00000414279.5:c.319+17342T>C ENSP00000413334.1:n.319+17342T>C
ENST00000431222.6:c.481+17342T>C ENSP00000416295.2:n.481+17342T>C
ENST00000479211.1:n.304+17342T>C
NM_000129.3:c.319+17342T>C , LRG_549t1:c.319+17342T>C NP_000120.2:n.319+17342T>C
XM_006715010.2:c.319+17342T>C XP_006715073.1:n.319+17342T>C
XM_011514342.1:c.481+17342T>C XP_011512644.1:n.481+17342T>C
NM_000129.4:c.319+17342T>C MANE Select NP_000120.2:n.319+17342T>C
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