Canonical Allele Identifier: CA362659248
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6167747C>G (hg19) chr6:g.6167514C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6167514C>G , CM000668.2:g.6167514C>G GRCh38
NC_000006.11:g.6167747C>G , CM000668.1:g.6167747C>G GRCh37
NC_000006.10:g.6112746C>G NCBI36
NG_008107.1:g.158178G>C , LRG_549:g.158178G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1852G>C MANE Select ENSP00000264870.3:p.Asp618His
ENST00000264870.7:c.1852G>C ENSP00000264870.3:p.Asp618His
NM_000129.3:c.1852G>C , LRG_549t1:c.1852G>C NP_000120.2:p.Asp618His
XM_006715010.2:c.1852G>C XP_006715073.1:p.Asp618His
XM_011514342.1:c.2014G>C XP_011512644.1:p.Asp672His
NM_000129.4:c.1852G>C MANE Select NP_000120.2:p.Asp618His
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