Canonical Allele Identifier: CA2677190776
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6182177-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182177C>A , CM000668.2:g.6182177C>A GRCh38
NC_000006.11:g.6182410C>A , CM000668.1:g.6182410C>A GRCh37
NC_000006.10:g.6127409C>A NCBI36
NG_008107.1:g.143515G>T , LRG_549:g.143515G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1306-36G>T MANE Select ENSP00000264870.3:n.1306-36G>T
ENST00000264870.7:c.1306-36G>T ENSP00000264870.3:n.1306-36G>T
NM_000129.3:c.1306-36G>T , LRG_549t1:c.1306-36G>T NP_000120.2:n.1306-36G>T
XM_006715010.2:c.1306-36G>T XP_006715073.1:n.1306-36G>T
XM_011514342.1:c.1468-36G>T XP_011512644.1:n.1468-36G>T
NM_000129.4:c.1306-36G>T MANE Select NP_000120.2:n.1306-36G>T
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