Canonical Allele Identifier: CA448645847
Gene: F13A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.6225016G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6224783G>A , CM000668.2:g.6224783G>A GRCh38
NC_000006.11:g.6225016G>A , CM000668.1:g.6225016G>A GRCh37
NC_000006.10:g.6170015G>A NCBI36
NG_008107.1:g.100909C>T , LRG_549:g.100909C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.876C>T MANE Select ENSP00000264870.3:p.Ala292=
ENST00000264870.7:c.876C>T ENSP00000264870.3:p.Ala292=
ENST00000445223.1:c.26C>T
NM_000129.3:c.876C>T , LRG_549t1:c.876C>T NP_000120.2:p.Ala292=
XM_006715010.2:c.876C>T XP_006715073.1:p.Ala292=
XM_011514342.1:c.1038C>T XP_011512644.1:p.Ala346=
NM_000129.4:c.876C>T MANE Select NP_000120.2:p.Ala292=