Canonical Allele Identifier: CA133891600
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs552746808
gnomAD v2: 6-6145310-C-A
gnomAD v3: 6-6145077-C-A
gnomAD v4: 6-6145077-C-A
MyVariant Identifiers: chr6:g.6145310C>A (hg19) chr6:g.6145077C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145077C>A , CM000668.2:g.6145077C>A GRCh38
NC_000006.11:g.6145310C>A , CM000668.1:g.6145310C>A GRCh37
NC_000006.10:g.6090309C>A NCBI36
NG_008107.1:g.180615G>T , LRG_549:g.180615G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*542G>T MANE Select ENSP00000264870.3:n.*542G>T
ENST00000264870.7:c.*542G>T ENSP00000264870.3:n.*542G>T
NM_000129.3:c.*542G>T , LRG_549t1:c.*542G>T NP_000120.2:n.*542G>T
XM_006715010.2:c.*542G>T XP_006715073.1:n.*542G>T
XM_011514342.1:c.*542G>T XP_011512644.1:n.*542G>T
NM_000129.4:c.*542G>T MANE Select NP_000120.2:n.*542G>T
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