Canonical Allele Identifier: CA448640552
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6182360G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182127G>T , CM000668.2:g.6182127G>T GRCh38
NC_000006.11:g.6182360G>T , CM000668.1:g.6182360G>T GRCh37
NC_000006.10:g.6127359G>T NCBI36
NG_008107.1:g.143565C>A , LRG_549:g.143565C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1320C>A MANE Select ENSP00000264870.3:p.Leu440=
ENST00000264870.7:c.1320C>A ENSP00000264870.3:p.Leu440=
NM_000129.3:c.1320C>A , LRG_549t1:c.1320C>A NP_000120.2:p.Leu440=
XM_006715010.2:c.1320C>A XP_006715073.1:p.Leu440=
XM_011514342.1:c.1482C>A XP_011512644.1:p.Leu494=
NM_000129.4:c.1320C>A MANE Select NP_000120.2:p.Leu440=
Search 100 bp 5'
Search 100 bp 3'