Canonical Allele Identifier: CA1607949657
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760255992
gnomAD v4: 6-6145287-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145287C>G , CM000668.2:g.6145287C>G GRCh38
NC_000006.11:g.6145520C>G , CM000668.1:g.6145520C>G GRCh37
NC_000006.10:g.6090519C>G NCBI36
NG_008107.1:g.180405G>C , LRG_549:g.180405G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*332G>C MANE Select ENSP00000264870.3:n.*332G>C
ENST00000264870.7:c.*332G>C ENSP00000264870.3:n.*332G>C
NM_000129.3:c.*332G>C , LRG_549t1:c.*332G>C NP_000120.2:n.*332G>C
XM_006715010.2:c.*332G>C XP_006715073.1:n.*332G>C
XM_011514342.1:c.*332G>C XP_011512644.1:n.*332G>C
NM_000129.4:c.*332G>C MANE Select NP_000120.2:n.*332G>C
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