Canonical Allele Identifier: CA3624108
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs753592685
ExAC: 6:6145804 A / G
gnomAD v2: 6-6145804-A-G
gnomAD v4: 6-6145571-A-G
MyVariant Identifiers: chr6:g.6145804A>G (hg19) chr6:g.6145571A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145571A>G , CM000668.2:g.6145571A>G GRCh38
NC_000006.11:g.6145804A>G , CM000668.1:g.6145804A>G GRCh37
NC_000006.10:g.6090803A>G NCBI36
NG_008107.1:g.180121T>C , LRG_549:g.180121T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*48T>C MANE Select ENSP00000264870.3:n.*48T>C
ENST00000264870.7:c.*48T>C ENSP00000264870.3:n.*48T>C
NM_000129.3:c.*48T>C , LRG_549t1:c.*48T>C NP_000120.2:n.*48T>C
XM_006715010.2:c.*48T>C XP_006715073.1:n.*48T>C
XM_011514342.1:c.*48T>C XP_011512644.1:n.*48T>C
NM_000129.4:c.*48T>C MANE Select NP_000120.2:n.*48T>C
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