Canonical Allele Identifier: CA565359607
Gene: F13A1 HGNC NCBI

Linked Data

dbSNP Id: rs1485111393
gnomAD v2: 6-6182156-G-T
gnomAD v3: 6-6181923-G-T
gnomAD v4: 6-6181923-G-T
MyVariant Identifiers: chr6:g.6182156G>T (hg19) chr6:g.6181923G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6181923G>T , CM000668.2:g.6181923G>T GRCh38
NC_000006.11:g.6182156G>T , CM000668.1:g.6182156G>T GRCh37
NC_000006.10:g.6127155G>T NCBI36
NG_008107.1:g.143769C>A , LRG_549:g.143769C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264870.8:c.1459+65C>A MANE Select ENSP00000264870.3:n.1459+65C>A
ENST00000264870.7:c.1459+65C>A ENSP00000264870.3:n.1459+65C>A
NM_000129.3:c.1459+65C>A , LRG_549t1:c.1459+65C>A NP_000120.2:n.1459+65C>A
XM_006715010.2:c.1459+65C>A XP_006715073.1:n.1459+65C>A
XM_011514342.1:c.1621+65C>A XP_011512644.1:n.1621+65C>A
NM_000129.4:c.1459+65C>A MANE Select NP_000120.2:n.1459+65C>A
Search 100 bp 5'
Search 100 bp 3'