Canonical Allele Identifier: CA134386679
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs933631154
gnomAD v2: 6-6182453-C-T
gnomAD v3: 6-6182220-C-T
gnomAD v4: 6-6182220-C-T
MyVariant Identifiers: chr6:g.6182453C>T (hg19) chr6:g.6182220C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182220C>T , CM000668.2:g.6182220C>T GRCh38
NC_000006.11:g.6182453C>T , CM000668.1:g.6182453C>T GRCh37
NC_000006.10:g.6127452C>T NCBI36
NG_008107.1:g.143472G>A , LRG_549:g.143472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1306-79G>A MANE Select ENSP00000264870.3:n.1306-79G>A
ENST00000264870.7:c.1306-79G>A ENSP00000264870.3:n.1306-79G>A
NM_000129.3:c.1306-79G>A , LRG_549t1:c.1306-79G>A NP_000120.2:n.1306-79G>A
XM_006715010.2:c.1306-79G>A XP_006715073.1:n.1306-79G>A
XM_011514342.1:c.1468-79G>A XP_011512644.1:n.1468-79G>A
NM_000129.4:c.1306-79G>A MANE Select NP_000120.2:n.1306-79G>A
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