Canonical Allele Identifier: CA3624279
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255183
ClinVar RCV Id: RCV000242868 RCV000366204 RCV000998515
dbSNP Id: rs5982
ExAC: 6:6174866 G / A
gnomAD v2: 6-6174866-G-A
gnomAD v3: 6-6174633-G-A
gnomAD v4: 6-6174633-G-A
MyVariant Identifiers: chr6:g.6174866G>A (hg19) chr6:g.6174633G>A (hg38)
PubMed: PMID:9920838
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6174633G>A , CM000668.2:g.6174633G>A GRCh38
NC_000006.11:g.6174866G>A , CM000668.1:g.6174866G>A GRCh37
NC_000006.10:g.6119865G>A NCBI36
NG_008107.1:g.151059C>T , LRG_549:g.151059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1694C>T MANE Select ENSP00000264870.3:p.Pro565Leu
ENST00000264870.7:c.1694C>T ENSP00000264870.3:p.Pro565Leu
NM_000129.3:c.1694C>T , LRG_549t1:c.1694C>T NP_000120.2:p.Pro565Leu
XM_006715010.2:c.1694C>T XP_006715073.1:p.Pro565Leu
XM_011514342.1:c.1856C>T XP_011512644.1:p.Pro619Leu
NM_000129.4:c.1694C>T MANE Select NP_000120.2:p.Pro565Leu
Search 100 bp 5'
Search 100 bp 3'