Canonical Allele Identifier: CA448645955

Gene: F13A1

Linked Data

• gnomAD v4: 6-6248399-G-A
• MyVariant Identifiers: chr6:g.6248632G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6248399G>A , CM000668.2:g.6248399G>A	GRCh38
NC_000006.11:g.6248632G>A , CM000668.1:g.6248632G>A	GRCh37
NC_000006.10:g.6193631G>A	NCBI36
NG_008107.1:g.77293C>T , LRG_549:g.77293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264870.8:c.711C>T MANE Select	ENSP00000264870.3:p.Asp237=
ENST00000264870.7:c.711C>T	ENSP00000264870.3:p.Asp237=
NM_000129.3:c.711C>T , LRG_549t1:c.711C>T	NP_000120.2:p.Asp237=
XM_006715010.2:c.711C>T	XP_006715073.1:p.Asp237=
XM_011514342.1:c.873C>T	XP_011512644.1:p.Asp291=
NM_000129.4:c.711C>T MANE Select	NP_000120.2:p.Asp237=