Canonical Allele Identifier: CA362740176
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1303550782
gnomAD v2: 6-6225071-C-T
gnomAD v3: 6-6224838-C-T
gnomAD v4: 6-6224838-C-T
MyVariant Identifiers: chr6:g.6225071C>T (hg19) chr6:g.6224838C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224838C>T , CM000668.2:g.6224838C>T GRCh38
NC_000006.11:g.6225071C>T , CM000668.1:g.6225071C>T GRCh37
NC_000006.10:g.6170070C>T NCBI36
NG_008107.1:g.100854G>A , LRG_549:g.100854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.821G>A MANE Select ENSP00000264870.3:p.Gly274Asp
ENST00000264870.7:c.821G>A ENSP00000264870.3:p.Gly274Asp
NM_000129.3:c.821G>A , LRG_549t1:c.821G>A NP_000120.2:p.Gly274Asp
XM_006715010.2:c.821G>A XP_006715073.1:p.Gly274Asp
XM_011514342.1:c.983G>A XP_011512644.1:p.Gly328Asp
NM_000129.4:c.821G>A MANE Select NP_000120.2:p.Gly274Asp
Search 100 bp 5'
Search 100 bp 3'