Canonical Allele Identifier: CA448645916
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6248333-G-A
MyVariant Identifiers: chr6:g.6248566G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248333G>A , CM000668.2:g.6248333G>A GRCh38
NC_000006.11:g.6248566G>A , CM000668.1:g.6248566G>A GRCh37
NC_000006.10:g.6193565G>A NCBI36
NG_008107.1:g.77359C>T , LRG_549:g.77359C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.777C>T MANE Select ENSP00000264870.3:p.Val259=
ENST00000264870.7:c.777C>T ENSP00000264870.3:p.Val259=
NM_000129.3:c.777C>T , LRG_549t1:c.777C>T NP_000120.2:p.Val259=
XM_006715010.2:c.777C>T XP_006715073.1:p.Val259=
XM_011514342.1:c.939C>T XP_011512644.1:p.Val313=
NM_000129.4:c.777C>T MANE Select NP_000120.2:p.Val259=
Search 100 bp 5'
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