Canonical Allele Identifier: CA824149361
Gene: TAF11 HGNC NCBI
BLTP3A HGNC NCBI

Linked Data

dbSNP Id: rs4646949
gnomAD v3: 6-34877672-T-C
gnomAD v4: 6-34877672-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34877672T>C , CM000668.2:g.34877672T>C GRCh38
NC_000006.11:g.34845449T>C , CM000668.1:g.34845449T>C GRCh37
NC_000006.10:g.34953427T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000693593.1:c.2157A>G (TAF11) ENSP00000508854.1:n.2157A>G
ENST00000361288.9:c.*918A>G (TAF11) MANE Select ENSP00000354633.4:n.*918A>G
ENST00000650109.1:c.*1062A>G (TAF11) ENSP00000497996.1:n.*1062A>G
ENST00000452449.6:c.4198-2337T>C (BLTP3A) ENSP00000400628.2:n.4198-2337T>C
NM_005643.4:c.*918A>G (TAF11) MANE Select NP_005634.1:n.*918A>G