Canonical Allele Identifier: CA367788125
Gene: BAZ1B HGNC NCBI

Linked Data

gnomAD v4: 7-73442732-G-C
MyVariant Identifiers: chr7:g.72857062G>C (hg19) chr7:g.73442732G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73442732G>C , CM000669.2:g.73442732G>C GRCh38
NC_000007.13:g.72857062G>C , CM000669.1:g.72857062G>C GRCh37
NC_000007.12:g.72494998G>C NCBI36
NG_027679.1:g.84554C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.4087C>G MANE Select ENSP00000342434.4:p.Pro1363Ala
ENST00000339594.8:c.4087C>G ENSP00000342434.4:p.Pro1363Ala
ENST00000404251.1:c.4087C>G ENSP00000385442.1:p.Pro1363Ala
NM_032408.3:c.4087C>G NP_115784.1:p.Pro1363Ala
XM_017012773.2:c.4087C>G XP_016868262.1:p.Pro1363Ala
NM_032408.4:c.4087C>G MANE Select NP_115784.1:p.Pro1363Ala
NM_001370402.1:c.4087C>G NP_001357331.1:p.Pro1363Ala
Search 100 bp 5'
Search 100 bp 3'