Canonical Allele Identifier: CA362737751
Gene: F13A1 HGNC NCBI

Linked Data

gnomAD v4: 6-6182141-C-G
MyVariant Identifiers: chr6:g.6182374C>G (hg19) chr6:g.6182141C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6182141C>G , CM000668.2:g.6182141C>G GRCh38
NC_000006.11:g.6182374C>G , CM000668.1:g.6182374C>G GRCh37
NC_000006.10:g.6127373C>G NCBI36
NG_008107.1:g.143551G>C , LRG_549:g.143551G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1306G>C MANE Select ENSP00000264870.3:p.Val436Leu
ENST00000264870.7:c.1306G>C ENSP00000264870.3:p.Val436Leu
NM_000129.3:c.1306G>C , LRG_549t1:c.1306G>C NP_000120.2:p.Val436Leu
XM_006715010.2:c.1306G>C XP_006715073.1:p.Val436Leu
XM_011514342.1:c.1468G>C XP_011512644.1:p.Val490Leu
NM_000129.4:c.1306G>C MANE Select NP_000120.2:p.Val436Leu
Search 100 bp 5'
Search 100 bp 3'