Canonical Allele Identifier: CA448640551
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6182360G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182127G>C , CM000668.2:g.6182127G>C GRCh38
NC_000006.11:g.6182360G>C , CM000668.1:g.6182360G>C GRCh37
NC_000006.10:g.6127359G>C NCBI36
NG_008107.1:g.143565C>G , LRG_549:g.143565C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1320C>G MANE Select ENSP00000264870.3:p.Leu440=
ENST00000264870.7:c.1320C>G ENSP00000264870.3:p.Leu440=
NM_000129.3:c.1320C>G , LRG_549t1:c.1320C>G NP_000120.2:p.Leu440=
XM_006715010.2:c.1320C>G XP_006715073.1:p.Leu440=
XM_011514342.1:c.1482C>G XP_011512644.1:p.Leu494=
NM_000129.4:c.1320C>G MANE Select NP_000120.2:p.Leu440=
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