Canonical Allele Identifier: CA362737291
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760996916
gnomAD v3: 6-6182021-T-C
gnomAD v4: 6-6182021-T-C
MyVariant Identifiers: chr6:g.6182254T>C (hg19) chr6:g.6182021T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182021T>C , CM000668.2:g.6182021T>C GRCh38
NC_000006.11:g.6182254T>C , CM000668.1:g.6182254T>C GRCh37
NC_000006.10:g.6127253T>C NCBI36
NG_008107.1:g.143671A>G , LRG_549:g.143671A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1426A>G MANE Select ENSP00000264870.3:p.Met476Val
ENST00000264870.7:c.1426A>G ENSP00000264870.3:p.Met476Val
NM_000129.3:c.1426A>G , LRG_549t1:c.1426A>G NP_000120.2:p.Met476Val
XM_006715010.2:c.1426A>G XP_006715073.1:p.Met476Val
XM_011514342.1:c.1588A>G XP_011512644.1:p.Met530Val
NM_000129.4:c.1426A>G MANE Select NP_000120.2:p.Met476Val
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