Canonical Allele Identifier: CA826874941
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1270417825
gnomAD v3: 6-6286098-C-T
gnomAD v4: 6-6286098-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6286098C>T , CM000668.2:g.6286098C>T GRCh38
NC_000006.11:g.6286331C>T , CM000668.1:g.6286331C>T GRCh37
NC_000006.10:g.6231330C>T NCBI36
NG_008107.1:g.39594G>A , LRG_549:g.39594G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.319+19253G>A MANE Select ENSP00000264870.3:n.319+19253G>A
ENST00000264870.7:c.319+19253G>A ENSP00000264870.3:n.319+19253G>A
ENST00000414279.5:c.319+19253G>A ENSP00000413334.1:n.319+19253G>A
ENST00000431222.6:c.481+19253G>A ENSP00000416295.2:n.481+19253G>A
ENST00000479211.1:n.304+19253G>A
NM_000129.3:c.319+19253G>A , LRG_549t1:c.319+19253G>A NP_000120.2:n.319+19253G>A
XM_006715010.2:c.319+19253G>A XP_006715073.1:n.319+19253G>A
XM_011514342.1:c.481+19253G>A XP_011512644.1:n.481+19253G>A
NM_000129.4:c.319+19253G>A MANE Select NP_000120.2:n.319+19253G>A