Canonical Allele Identifier: CA362659196
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6167507-A-G
MyVariant Identifiers: chr6:g.6167740A>G (hg19) chr6:g.6167507A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6167507A>G , CM000668.2:g.6167507A>G GRCh38
NC_000006.11:g.6167740A>G , CM000668.1:g.6167740A>G GRCh37
NC_000006.10:g.6112739A>G NCBI36
NG_008107.1:g.158185T>C , LRG_549:g.158185T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1859T>C MANE Select ENSP00000264870.3:p.Leu620Pro
ENST00000264870.7:c.1859T>C ENSP00000264870.3:p.Leu620Pro
NM_000129.3:c.1859T>C , LRG_549t1:c.1859T>C NP_000120.2:p.Leu620Pro
XM_006715010.2:c.1859T>C XP_006715073.1:p.Leu620Pro
XM_011514342.1:c.2021T>C XP_011512644.1:p.Leu674Pro
NM_000129.4:c.1859T>C MANE Select NP_000120.2:p.Leu620Pro
Search 100 bp 5'
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