Canonical Allele Identifier: CA3734051
Gene: TNXB HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32058081G>A
GRCh37 chr6:g.32025858G>A
Revel Score:
ENST00000375244 0.189
ENST00000375247 0.189
gnomAD v2:
6:32025858 G / A
gnomAD v3:
6:32058081 G / A
gnomAD v4:
chr6-32058081-G-A
Joint Max Group AF 0.00198057 (EAS)
Genomes Max Group AF 0.00240359 (EAS)
Exomes Max Group AF 0.00180021 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32058081G>A , CM000668.2:g.32058081G>A GRCh38
NC_000006.11:g.32025858G>A , CM000668.1:g.32025858G>A GRCh37
NC_000006.10:g.32133836G>A NCBI36
NG_008337.2:g.56294C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.7802C>T MANE Select ENSP00000496448.1:p.Pro2601Leu
ENST00000647633.1:c.8543C>T ENSP00000497649.1:p.Pro2848Leu
ENST00000375244.7:c.7802C>T ENSP00000364393.3:p.Pro2601Leu
ENST00000611016.2:c.962C>T ENSP00000483409.1:p.Pro321Leu
NM_019105.6:c.7802C>T NP_061978.6:p.Pro2601Leu
NM_001365276.1:c.7802C>T NP_001352205.1:p.Pro2601Leu
NM_019105.7:c.7802C>T NP_061978.6:p.Pro2601Leu
NM_001365276.2:c.7802C>T MANE Select NP_001352205.1:p.Pro2601Leu
NM_019105.8:c.7802C>T NP_061978.6:p.Pro2601Leu
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