Canonical Allele Identifier: CA565087301
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs992433275
gnomAD v2: 6-6145291-A-C
gnomAD v3: 6-6145058-A-C
gnomAD v4: 6-6145058-A-C
MyVariant Identifiers: chr6:g.6145291A>C (hg19) chr6:g.6145058A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145058A>C , CM000668.2:g.6145058A>C GRCh38
NC_000006.11:g.6145291A>C , CM000668.1:g.6145291A>C GRCh37
NC_000006.10:g.6090290A>C NCBI36
NG_008107.1:g.180634T>G , LRG_549:g.180634T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*561T>G MANE Select ENSP00000264870.3:n.*561T>G
ENST00000264870.7:c.*561T>G ENSP00000264870.3:n.*561T>G
NM_000129.3:c.*561T>G , LRG_549t1:c.*561T>G NP_000120.2:n.*561T>G
XM_006715010.2:c.*561T>G XP_006715073.1:n.*561T>G
XM_011514342.1:c.*561T>G XP_011512644.1:n.*561T>G
NM_000129.4:c.*561T>G MANE Select NP_000120.2:n.*561T>G
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