Canonical Allele Identifier: CA1085596239
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760253793
gnomAD v3: 6-6145118-T-C
gnomAD v4: 6-6145118-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145118T>C , CM000668.2:g.6145118T>C GRCh38
NC_000006.11:g.6145351T>C , CM000668.1:g.6145351T>C GRCh37
NC_000006.10:g.6090350T>C NCBI36
NG_008107.1:g.180574A>G , LRG_549:g.180574A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*501A>G MANE Select ENSP00000264870.3:n.*501A>G
ENST00000264870.7:c.*501A>G ENSP00000264870.3:n.*501A>G
NM_000129.3:c.*501A>G , LRG_549t1:c.*501A>G NP_000120.2:n.*501A>G
XM_006715010.2:c.*501A>G XP_006715073.1:n.*501A>G
XM_011514342.1:c.*501A>G XP_011512644.1:n.*501A>G
NM_000129.4:c.*501A>G MANE Select NP_000120.2:n.*501A>G
Search 100 bp 5'
Search 100 bp 3'