Canonical Allele Identifier: CA1607993205
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1758136370

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6286108C>G , CM000668.2:g.6286108C>G GRCh38
NC_000006.11:g.6286341C>G , CM000668.1:g.6286341C>G GRCh37
NC_000006.10:g.6231340C>G NCBI36
NG_008107.1:g.39584G>C , LRG_549:g.39584G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.319+19243G>C MANE Select ENSP00000264870.3:n.319+19243G>C
ENST00000264870.7:c.319+19243G>C ENSP00000264870.3:n.319+19243G>C
ENST00000414279.5:c.319+19243G>C ENSP00000413334.1:n.319+19243G>C
ENST00000431222.6:c.481+19243G>C ENSP00000416295.2:n.481+19243G>C
ENST00000479211.1:n.304+19243G>C
NM_000129.3:c.319+19243G>C , LRG_549t1:c.319+19243G>C NP_000120.2:n.319+19243G>C
XM_006715010.2:c.319+19243G>C XP_006715073.1:n.319+19243G>C
XM_011514342.1:c.481+19243G>C XP_011512644.1:n.481+19243G>C
NM_000129.4:c.319+19243G>C MANE Select NP_000120.2:n.319+19243G>C