Canonical Allele Identifier: CA3624557
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs761960891
ExAC: 6:6248568 C / G
gnomAD v2: 6-6248568-C-G
gnomAD v4: 6-6248335-C-G
MyVariant Identifiers: chr6:g.6248568C>G (hg19) chr6:g.6248568_6248569delinsGT (hg19) chr6:g.6248335C>G (hg38) chr6:g.6248335_6248336delinsGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248335C>G , CM000668.2:g.6248335C>G GRCh38
NC_000006.11:g.6248568C>G , CM000668.1:g.6248568C>G GRCh37
NC_000006.10:g.6193567C>G NCBI36
NG_008107.1:g.77357G>C , LRG_549:g.77357G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.775G>C MANE Select ENSP00000264870.3:p.Val259Leu
ENST00000264870.7:c.775G>C ENSP00000264870.3:p.Val259Leu
NM_000129.3:c.775G>C , LRG_549t1:c.775G>C NP_000120.2:p.Val259Leu
XM_006715010.2:c.775G>C XP_006715073.1:p.Val259Leu
XM_011514342.1:c.937G>C XP_011512644.1:p.Val313Leu
NM_000129.4:c.775G>C MANE Select NP_000120.2:p.Val259Leu
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