Canonical Allele Identifier: CA2263559983

Gene: PHB1

Linked Data

• dbSNP Id: rs2070704938
• gnomAD v4: 17-49409271-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49409271A>C , CM000679.2:g.49409271A>C	GRCh38
NC_000017.10:g.47486633A>C , CM000679.1:g.47486633A>C	GRCh37
NC_000017.9:g.44841632A>C	NCBI36
NG_023046.1:g.10610T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696365.1:c.393+60T>G	ENSP00000512581.1:n.393+60T>G
ENST00000300408.8:c.393+60T>G MANE Select	ENSP00000300408.3:n.393+60T>G
ENST00000419140.7:c.393+60T>G	ENSP00000393320.3:n.393+60T>G
ENST00000434917.3:n.484+60T>G
ENST00000446735.6:c.231+60T>G	ENSP00000407828.2:n.231+60T>G
ENST00000504124.6:c.393+60T>G	ENSP00000426433.3:n.393+60T>G
ENST00000508009.6:n.484+60T>G
ENST00000511832.6:c.393+60T>G	ENSP00000425035.2:n.393+60T>G
ENST00000512041.7:c.393+60T>G	ENSP00000422182.3:n.393+60T>G
ENST00000614445.5:c.393+60T>G	ENSP00000479488.1:n.393+60T>G
ENST00000617874.5:c.393+60T>G	ENSP00000484113.1:n.393+60T>G
ENST00000300408.7:c.393+60T>G	ENSP00000300408.3:n.393+60T>G
ENST00000393345.8:n.444+60T>G
ENST00000419140.6:c.393+60T>G	ENSP00000393320.2:n.393+60T>G
ENST00000446735.5:c.393+60T>G	ENSP00000407828.1:n.393+60T>G
ENST00000504124.5:c.393+60T>G	ENSP00000426433.2:n.393+60T>G
ENST00000506273.1:n.348+60T>G
ENST00000508009.5:n.220+60T>G
ENST00000511832.5:c.393+60T>G	ENSP00000425035.1:n.393+60T>G
ENST00000512041.6:c.393+60T>G	ENSP00000422182.2:n.393+60T>G
ENST00000614445.4:c.393+60T>G	ENSP00000479488.1:n.393+60T>G
ENST00000617874.4:c.393+60T>G	ENSP00000484113.1:n.393+60T>G
NM_001281496.1:c.393+60T>G	NP_001268425.1:n.393+60T>G
NM_001281497.1:c.393+60T>G	NP_001268426.1:n.393+60T>G
NM_001281715.1:c.393+60T>G	NP_001268644.1:n.393+60T>G
NM_002634.3:c.393+60T>G	NP_002625.1:n.393+60T>G
XM_017024763.1:c.393+60T>G	XP_016880252.1:n.393+60T>G
NM_002634.4:c.393+60T>G MANE Select	NP_002625.1:n.393+60T>G
NM_001281496.2:c.393+60T>G	NP_001268425.1:n.393+60T>G
NM_001281497.2:c.393+60T>G	NP_001268426.1:n.393+60T>G
NM_001281715.2:c.393+60T>G	NP_001268644.1:n.393+60T>G