Canonical Allele Identifier: CA449823036

Gene: TNXB

Linked Data

• dbSNP Id: rs1779514070
• gnomAD v4: 6-32082292-G-A
• COSMIC: COSM3625250 ; COSM3625251
• MyVariant Identifiers: chr6:g.32050069G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32082292G>A , CM000668.2:g.32082292G>A	GRCh38
NC_000006.11:g.32050069G>A , CM000668.1:g.32050069G>A	GRCh37
NC_000006.10:g.32158047G>A	NCBI36
NG_008337.2:g.32083C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644971.2:c.3480C>T MANE Select	ENSP00000496448.1:p.Pro1160=
ENST00000647633.1:c.4221C>T	ENSP00000497649.1:p.Pro1407=
ENST00000375244.7:c.3480C>T	ENSP00000364393.3:p.Pro1160=
ENST00000613214.4:c.3741C>T	ENSP00000480067.1:p.Pro1247=
NM_019105.6:c.3480C>T	NP_061978.6:p.Pro1160=
NM_001365276.1:c.3480C>T	NP_001352205.1:p.Pro1160=
NM_019105.7:c.3480C>T	NP_061978.6:p.Pro1160=
NM_001365276.2:c.3480C>T MANE Select	NP_001352205.1:p.Pro1160=
NM_019105.8:c.3480C>T	NP_061978.6:p.Pro1160=