Canonical Allele Identifier: CA826657919
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1215343730
gnomAD v3: 6-6145303-C-T
gnomAD v4: 6-6145303-C-T
MyVariant Identifiers: chr6:g.6145536C>T (hg19) chr6:g.6145303C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145303C>T , CM000668.2:g.6145303C>T GRCh38
NC_000006.11:g.6145536C>T , CM000668.1:g.6145536C>T GRCh37
NC_000006.10:g.6090535C>T NCBI36
NG_008107.1:g.180389G>A , LRG_549:g.180389G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*316G>A MANE Select ENSP00000264870.3:n.*316G>A
ENST00000264870.7:c.*316G>A ENSP00000264870.3:n.*316G>A
NM_000129.3:c.*316G>A , LRG_549t1:c.*316G>A NP_000120.2:n.*316G>A
XM_006715010.2:c.*316G>A XP_006715073.1:n.*316G>A
XM_011514342.1:c.*316G>A XP_011512644.1:n.*316G>A
NM_000129.4:c.*316G>A MANE Select NP_000120.2:n.*316G>A
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