Canonical Allele Identifier: CA362740329
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6248351-T-G
MyVariant Identifiers: chr6:g.6248584T>G (hg19) chr6:g.6248351T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6248351T>G , CM000668.2:g.6248351T>G GRCh38
NC_000006.11:g.6248584T>G , CM000668.1:g.6248584T>G GRCh37
NC_000006.10:g.6193583T>G NCBI36
NG_008107.1:g.77341A>C , LRG_549:g.77341A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.759A>C MANE Select ENSP00000264870.3:p.Arg253Ser
ENST00000264870.7:c.759A>C ENSP00000264870.3:p.Arg253Ser
NM_000129.3:c.759A>C , LRG_549t1:c.759A>C NP_000120.2:p.Arg253Ser
XM_006715010.2:c.759A>C XP_006715073.1:p.Arg253Ser
XM_011514342.1:c.921A>C XP_011512644.1:p.Arg307Ser
NM_000129.4:c.759A>C MANE Select NP_000120.2:p.Arg253Ser
Search 100 bp 5'
Search 100 bp 3'