Canonical Allele Identifier: CA3624365
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs758588092
ExAC: 6:6182325 A / T
gnomAD v2: 6-6182325-A-T
gnomAD v4: 6-6182092-A-T
MyVariant Identifiers: chr6:g.6182325A>T (hg19) chr6:g.6182092A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182092A>T , CM000668.2:g.6182092A>T GRCh38
NC_000006.11:g.6182325A>T , CM000668.1:g.6182325A>T GRCh37
NC_000006.10:g.6127324A>T NCBI36
NG_008107.1:g.143600T>A , LRG_549:g.143600T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1355T>A MANE Select ENSP00000264870.3:p.Val452Glu
ENST00000264870.7:c.1355T>A ENSP00000264870.3:p.Val452Glu
NM_000129.3:c.1355T>A , LRG_549t1:c.1355T>A NP_000120.2:p.Val452Glu
XM_006715010.2:c.1355T>A XP_006715073.1:p.Val452Glu
XM_011514342.1:c.1517T>A XP_011512644.1:p.Val506Glu
NM_000129.4:c.1355T>A MANE Select NP_000120.2:p.Val452Glu
Search 100 bp 5'
Search 100 bp 3'