Canonical Allele Identifier: CA3624222
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs779898586
ExAC: 6:6167741 G / T
gnomAD v2: 6-6167741-G-T
gnomAD v4: 6-6167508-G-T
MyVariant Identifiers: chr6:g.6167741G>T (hg19) chr6:g.6167508G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6167508G>T , CM000668.2:g.6167508G>T GRCh38
NC_000006.11:g.6167741G>T , CM000668.1:g.6167741G>T GRCh37
NC_000006.10:g.6112740G>T NCBI36
NG_008107.1:g.158184C>A , LRG_549:g.158184C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.1858C>A MANE Select ENSP00000264870.3:p.Leu620Met
ENST00000264870.7:c.1858C>A ENSP00000264870.3:p.Leu620Met
NM_000129.3:c.1858C>A , LRG_549t1:c.1858C>A NP_000120.2:p.Leu620Met
XM_006715010.2:c.1858C>A XP_006715073.1:p.Leu620Met
XM_011514342.1:c.2020C>A XP_011512644.1:p.Leu674Met
NM_000129.4:c.1858C>A MANE Select NP_000120.2:p.Leu620Met
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