Canonical Allele Identifier: CA448640553
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760999481
gnomAD v4: 6-6182130-G-A
MyVariant Identifiers: chr6:g.6182363G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182130G>A , CM000668.2:g.6182130G>A GRCh38
NC_000006.11:g.6182363G>A , CM000668.1:g.6182363G>A GRCh37
NC_000006.10:g.6127362G>A NCBI36
NG_008107.1:g.143562C>T , LRG_549:g.143562C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1317C>T MANE Select ENSP00000264870.3:p.Asp439=
ENST00000264870.7:c.1317C>T ENSP00000264870.3:p.Asp439=
NM_000129.3:c.1317C>T , LRG_549t1:c.1317C>T NP_000120.2:p.Asp439=
XM_006715010.2:c.1317C>T XP_006715073.1:p.Asp439=
XM_011514342.1:c.1479C>T XP_011512644.1:p.Asp493=
NM_000129.4:c.1317C>T MANE Select NP_000120.2:p.Asp439=
Search 100 bp 5'
Search 100 bp 3'