Canonical Allele Identifier: CA3624512

Gene: F13A1

Linked Data

• dbSNP Id: rs761265703
• ExAC: 6:6224953 G / A
• gnomAD v2: 6-6224953-G-A
• gnomAD v4: 6-6224720-G-A
• COSMIC: COSM3875053
• MyVariant Identifiers: chr6:g.6224953G>A (hg19) ; chr6:g.6224720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.6224720G>A , CM000668.2:g.6224720G>A	GRCh38
NC_000006.11:g.6224953G>A , CM000668.1:g.6224953G>A	GRCh37
NC_000006.10:g.6169952G>A	NCBI36
NG_008107.1:g.100972C>T , LRG_549:g.100972C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264870.8:c.939C>T MANE Select	ENSP00000264870.3:p.Gly313=
ENST00000264870.7:c.939C>T	ENSP00000264870.3:p.Gly313=
ENST00000445223.1:c.89C>T
NM_000129.3:c.939C>T , LRG_549t1:c.939C>T	NP_000120.2:p.Gly313=
XM_006715010.2:c.939C>T	XP_006715073.1:p.Gly313=
XM_011514342.1:c.1101C>T	XP_011512644.1:p.Gly367=
NM_000129.4:c.939C>T MANE Select	NP_000120.2:p.Gly313=