Canonical Allele Identifier: CA291461707
Gene: PHB1 HGNC NCBI

Linked Data

dbSNP Id: rs6917
gnomAD v2: 17-47481543-G-A
gnomAD v3: 17-49404181-G-A
gnomAD v4: 17-49404181-G-A
MyVariant Identifiers: chr17:g.47481543G>A (hg19) chr17:g.49404181G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49404181G>A , CM000679.2:g.49404181G>A GRCh38
NC_000017.10:g.47481543G>A , CM000679.1:g.47481543G>A GRCh37
NC_000017.9:g.44836542G>A NCBI36
NG_023046.1:g.15700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696365.1:c.*811C>T ENSP00000512581.1:n.*811C>T
ENST00000300408.8:c.*811C>T MANE Select ENSP00000300408.3:n.*811C>T
ENST00000419140.7:c.*811C>T ENSP00000393320.3:n.*811C>T
ENST00000446735.6:c.*811C>T ENSP00000407828.2:n.*811C>T
ENST00000504124.6:c.*811C>T ENSP00000426433.3:n.*811C>T
ENST00000508009.6:n.3908C>T
ENST00000511832.6:c.*811C>T ENSP00000425035.2:n.*811C>T
ENST00000512041.7:c.*708C>T ENSP00000422182.3:n.*708C>T
ENST00000614445.5:c.*811C>T ENSP00000479488.1:n.*811C>T
ENST00000617874.5:c.*811C>T ENSP00000484113.1:n.*811C>T
ENST00000300408.7:c.*811C>T ENSP00000300408.3:n.*811C>T
ENST00000511832.5:c.*811C>T ENSP00000425035.1:n.*811C>T
ENST00000614445.4:c.*811C>T ENSP00000479488.1:n.*811C>T
ENST00000617874.4:c.*811C>T ENSP00000484113.1:n.*811C>T
NM_001281496.1:c.*811C>T NP_001268425.1:n.*811C>T
NM_001281497.1:c.*811C>T NP_001268426.1:n.*811C>T
NM_001281715.1:c.*811C>T NP_001268644.1:n.*811C>T
NM_002634.3:c.*811C>T NP_002625.1:n.*811C>T
XM_017024763.1:c.*811C>T XP_016880252.1:n.*811C>T
NM_002634.4:c.*811C>T MANE Select NP_002625.1:n.*811C>T
NM_001281496.2:c.*811C>T NP_001268425.1:n.*811C>T
NM_001281497.2:c.*811C>T NP_001268426.1:n.*811C>T
NM_001281715.2:c.*811C>T NP_001268644.1:n.*811C>T
Search 100 bp 5'
Search 100 bp 3'