Canonical Allele Identifier: CA1085596342
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1760260633
gnomAD v3: 6-6145495-C-A
gnomAD v4: 6-6145495-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6145495C>A , CM000668.2:g.6145495C>A GRCh38
NC_000006.11:g.6145728C>A , CM000668.1:g.6145728C>A GRCh37
NC_000006.10:g.6090727C>A NCBI36
NG_008107.1:g.180197G>T , LRG_549:g.180197G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.*124G>T MANE Select ENSP00000264870.3:n.*124G>T
ENST00000264870.7:c.*124G>T ENSP00000264870.3:n.*124G>T
NM_000129.3:c.*124G>T , LRG_549t1:c.*124G>T NP_000120.2:n.*124G>T
XM_006715010.2:c.*124G>T XP_006715073.1:n.*124G>T
XM_011514342.1:c.*124G>T XP_011512644.1:n.*124G>T
NM_000129.4:c.*124G>T MANE Select NP_000120.2:n.*124G>T
Search 100 bp 5'
Search 100 bp 3'