Canonical Allele Identifier: CA565087313
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1470119845
gnomAD v2: 6-6145673-T-A
gnomAD v3: 6-6145440-T-A
gnomAD v4: 6-6145440-T-A
MyVariant Identifiers: chr6:g.6145673T>A (hg19) chr6:g.6145440T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145440T>A , CM000668.2:g.6145440T>A GRCh38
NC_000006.11:g.6145673T>A , CM000668.1:g.6145673T>A GRCh37
NC_000006.10:g.6090672T>A NCBI36
NG_008107.1:g.180252A>T , LRG_549:g.180252A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*179A>T MANE Select ENSP00000264870.3:n.*179A>T
ENST00000264870.7:c.*179A>T ENSP00000264870.3:n.*179A>T
NM_000129.3:c.*179A>T , LRG_549t1:c.*179A>T NP_000120.2:n.*179A>T
XM_006715010.2:c.*179A>T XP_006715073.1:n.*179A>T
XM_011514342.1:c.*179A>T XP_011512644.1:n.*179A>T
NM_000129.4:c.*179A>T MANE Select NP_000120.2:n.*179A>T
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