Canonical Allele Identifier: CA134391366
Gene: F13A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.6223749T>A
GRCh37 chr6:g.6223982T>A
gnomAD v2:
6:6223982 T / A
gnomAD v3:
6:6223749 T / A
gnomAD v4:
chr6-6223749-T-A
Joint Max Group AF 0.63457014 (EAS)
Genomes Max Group AF 0.63457014 (EAS)
dbSNP:
3024405
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6223749T>A , CM000668.2:g.6223749T>A GRCh38
NC_000006.11:g.6223982T>A , CM000668.1:g.6223982T>A GRCh37
NC_000006.10:g.6168981T>A NCBI36
NG_008107.1:g.101943A>T , LRG_549:g.101943A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.973+937A>T MANE Select ENSP00000264870.3:n.973+937A>T
ENST00000264870.7:c.973+937A>T ENSP00000264870.3:n.973+937A>T
ENST00000445223.1:c.123+937A>T
NM_000129.3:c.973+937A>T , LRG_549t1:c.973+937A>T NP_000120.2:n.973+937A>T
XM_006715010.2:c.973+937A>T XP_006715073.1:n.973+937A>T
XM_011514342.1:c.1135+937A>T XP_011512644.1:n.1135+937A>T
NM_000129.4:c.973+937A>T MANE Select NP_000120.2:n.973+937A>T
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