Canonical Allele Identifier: CA2677189633
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6145491-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145491G>C , CM000668.2:g.6145491G>C GRCh38
NC_000006.11:g.6145724G>C , CM000668.1:g.6145724G>C GRCh37
NC_000006.10:g.6090723G>C NCBI36
NG_008107.1:g.180201C>G , LRG_549:g.180201C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*128C>G MANE Select ENSP00000264870.3:n.*128C>G
ENST00000264870.7:c.*128C>G ENSP00000264870.3:n.*128C>G
NM_000129.3:c.*128C>G , LRG_549t1:c.*128C>G NP_000120.2:n.*128C>G
XM_006715010.2:c.*128C>G XP_006715073.1:n.*128C>G
XM_011514342.1:c.*128C>G XP_011512644.1:n.*128C>G
NM_000129.4:c.*128C>G MANE Select NP_000120.2:n.*128C>G
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