Canonical Allele Identifier: CA795545208
Gene: TEC HGNC NCBI

Linked Data

dbSNP Id: rs1339824861
gnomAD v3: 4-48218887-C-T
gnomAD v4: 4-48218887-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.48218887C>T , CM000666.2:g.48218887C>T GRCh38
NC_000004.11:g.48220904C>T , CM000666.1:g.48220904C>T GRCh37
NC_000004.10:g.47915661C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000381501.8:c.138+9590G>A MANE Select ENSP00000370912.3:n.138+9590G>A
ENST00000381501.7:c.138+9590G>A ENSP00000370912.3:n.138+9590G>A
ENST00000505452.5:c.138+9590G>A ENSP00000424567.1:n.138+9590G>A
NM_003215.2:c.138+9590G>A NP_003206.2:n.138+9590G>A
XM_011513735.1:c.138+9590G>A XP_011512037.1:n.138+9590G>A
XM_011513736.1:c.138+9590G>A XP_011512038.1:n.138+9590G>A
XM_011513737.1:c.-109+9590G>A XP_011512039.1:n.-109+9590G>A
XM_011513738.1:c.-143+9590G>A XP_011512040.1:n.-143+9590G>A
XM_011513739.1:c.-51+9590G>A XP_011512041.1:n.-51+9590G>A
XM_011513740.1:c.138+9590G>A XP_011512042.1:n.138+9590G>A
XM_011513741.1:c.138+9590G>A XP_011512043.1:n.138+9590G>A
XR_925160.1:n.183+9590G>A
XR_925161.1:n.183+9590G>A
XM_011513737.2:c.-109+9590G>A XP_011512039.1:n.-109+9590G>A
XM_024454193.1:c.138+9590G>A XP_024309961.1:n.138+9590G>A
XR_001741318.1:n.183+9590G>A
XR_001741319.1:n.296+9590G>A
XR_925160.2:n.183+9590G>A
NM_003215.3:c.138+9590G>A MANE Select NP_003206.2:n.138+9590G>A