Canonical Allele Identifier: CA362737718
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6182365C>G (hg19) chr6:g.6182132C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182132C>G , CM000668.2:g.6182132C>G GRCh38
NC_000006.11:g.6182365C>G , CM000668.1:g.6182365C>G GRCh37
NC_000006.10:g.6127364C>G NCBI36
NG_008107.1:g.143560G>C , LRG_549:g.143560G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1315G>C MANE Select ENSP00000264870.3:p.Asp439His
ENST00000264870.7:c.1315G>C ENSP00000264870.3:p.Asp439His
NM_000129.3:c.1315G>C , LRG_549t1:c.1315G>C NP_000120.2:p.Asp439His
XM_006715010.2:c.1315G>C XP_006715073.1:p.Asp439His
XM_011514342.1:c.1477G>C XP_011512644.1:p.Asp493His
NM_000129.4:c.1315G>C MANE Select NP_000120.2:p.Asp439His
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