Canonical Allele Identifier: CA1087508195
Gene: ATF6B HGNC NCBI

Linked Data

dbSNP Id: rs1051565096
gnomAD v3: 6-32115539-A-G
gnomAD v4: 6-32115539-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32115539A>G , CM000668.2:g.32115539A>G GRCh38
NC_000006.11:g.32083316A>G , CM000668.1:g.32083316A>G GRCh37
NC_000006.10:g.32191294A>G NCBI36
NG_033940.1:g.17702T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375203.8:c.*200T>C MANE Select ENSP00000364349.3:n.*200T>C
ENST00000453203.2:c.*451T>C ENSP00000393419.2:n.*451T>C
ENST00000375201.8:c.*200T>C ENSP00000364347.4:n.*200T>C
ENST00000375203.7:c.*200T>C ENSP00000364349.3:n.*200T>C
ENST00000494022.1:n.289+1165T>C
NM_001136153.1:c.*200T>C NP_001129625.1:n.*200T>C
NM_004381.4:c.*200T>C NP_004372.3:n.*200T>C
NM_004381.5:c.*200T>C MANE Select NP_004372.3:n.*200T>C
NM_001136153.2:c.*200T>C NP_001129625.1:n.*200T>C
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