Canonical Allele Identifier: CA826658045
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1485401157
gnomAD v4: 6-6145564-T-G
MyVariant Identifiers: chr6:g.6145797T>G (hg19) chr6:g.6145564T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145564T>G , CM000668.2:g.6145564T>G GRCh38
NC_000006.11:g.6145797T>G , CM000668.1:g.6145797T>G GRCh37
NC_000006.10:g.6090796T>G NCBI36
NG_008107.1:g.180128A>C , LRG_549:g.180128A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*55A>C MANE Select ENSP00000264870.3:n.*55A>C
ENST00000264870.7:c.*55A>C ENSP00000264870.3:n.*55A>C
NM_000129.3:c.*55A>C , LRG_549t1:c.*55A>C NP_000120.2:n.*55A>C
XM_006715010.2:c.*55A>C XP_006715073.1:n.*55A>C
XM_011514342.1:c.*55A>C XP_011512644.1:n.*55A>C
NM_000129.4:c.*55A>C MANE Select NP_000120.2:n.*55A>C
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