Canonical Allele Identifier: CA134398176
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs569460221
gnomAD v3: 6-6286100-G-A
gnomAD v4: 6-6286100-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6286100G>A , CM000668.2:g.6286100G>A GRCh38
NC_000006.11:g.6286333G>A , CM000668.1:g.6286333G>A GRCh37
NC_000006.10:g.6231332G>A NCBI36
NG_008107.1:g.39592C>T , LRG_549:g.39592C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.319+19251C>T MANE Select ENSP00000264870.3:n.319+19251C>T
ENST00000264870.7:c.319+19251C>T ENSP00000264870.3:n.319+19251C>T
ENST00000414279.5:c.319+19251C>T ENSP00000413334.1:n.319+19251C>T
ENST00000431222.6:c.481+19251C>T ENSP00000416295.2:n.481+19251C>T
ENST00000479211.1:n.304+19251C>T
NM_000129.3:c.319+19251C>T , LRG_549t1:c.319+19251C>T NP_000120.2:n.319+19251C>T
XM_006715010.2:c.319+19251C>T XP_006715073.1:n.319+19251C>T
XM_011514342.1:c.481+19251C>T XP_011512644.1:n.481+19251C>T
NM_000129.4:c.319+19251C>T MANE Select NP_000120.2:n.319+19251C>T