Canonical Allele Identifier: CA565087307
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1217071139
gnomAD v2: 6-6145532-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145299A>C , CM000668.2:g.6145299A>C GRCh38
NC_000006.11:g.6145532A>C , CM000668.1:g.6145532A>C GRCh37
NC_000006.10:g.6090531A>C NCBI36
NG_008107.1:g.180393T>G , LRG_549:g.180393T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.*320T>G MANE Select ENSP00000264870.3:n.*320T>G
ENST00000264870.7:c.*320T>G ENSP00000264870.3:n.*320T>G
NM_000129.3:c.*320T>G , LRG_549t1:c.*320T>G NP_000120.2:n.*320T>G
XM_006715010.2:c.*320T>G XP_006715073.1:n.*320T>G
XM_011514342.1:c.*320T>G XP_011512644.1:n.*320T>G
NM_000129.4:c.*320T>G MANE Select NP_000120.2:n.*320T>G