Canonical Allele Identifier: CA134386675
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs549536781
gnomAD v2: 6-6182429-G-A
gnomAD v3: 6-6182196-G-A
gnomAD v4: 6-6182196-G-A
MyVariant Identifiers: chr6:g.6182429G>A (hg19) chr6:g.6182196G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182196G>A , CM000668.2:g.6182196G>A GRCh38
NC_000006.11:g.6182429G>A , CM000668.1:g.6182429G>A GRCh37
NC_000006.10:g.6127428G>A NCBI36
NG_008107.1:g.143496C>T , LRG_549:g.143496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1306-55C>T MANE Select ENSP00000264870.3:n.1306-55C>T
ENST00000264870.7:c.1306-55C>T ENSP00000264870.3:n.1306-55C>T
NM_000129.3:c.1306-55C>T , LRG_549t1:c.1306-55C>T NP_000120.2:n.1306-55C>T
XM_006715010.2:c.1306-55C>T XP_006715073.1:n.1306-55C>T
XM_011514342.1:c.1468-55C>T XP_011512644.1:n.1468-55C>T
NM_000129.4:c.1306-55C>T MANE Select NP_000120.2:n.1306-55C>T
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