Canonical Allele Identifier: CA2677189613
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145480-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145480A>C , CM000668.2:g.6145480A>C GRCh38
NC_000006.11:g.6145713A>C , CM000668.1:g.6145713A>C GRCh37
NC_000006.10:g.6090712A>C NCBI36
NG_008107.1:g.180212T>G , LRG_549:g.180212T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*139T>G MANE Select ENSP00000264870.3:n.*139T>G
ENST00000264870.7:c.*139T>G ENSP00000264870.3:n.*139T>G
NM_000129.3:c.*139T>G , LRG_549t1:c.*139T>G NP_000120.2:n.*139T>G
XM_006715010.2:c.*139T>G XP_006715073.1:n.*139T>G
XM_011514342.1:c.*139T>G XP_011512644.1:n.*139T>G
NM_000129.4:c.*139T>G MANE Select NP_000120.2:n.*139T>G
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