Canonical Allele Identifier: CA8638280

Gene: PHB1

Linked Data

• dbSNP Id: rs746195052
• ExAC: 17:47486460 C / T
• gnomAD v2: 17-47486460-C-T
• gnomAD v3: 17-49409098-C-T
• gnomAD v4: 17-49409098-C-T
• MyVariant Identifiers: chr17:g.47486460C>T (hg19) ; chr17:g.49409098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49409098C>T , CM000679.2:g.49409098C>T	GRCh38
NC_000017.10:g.47486460C>T , CM000679.1:g.47486460C>T	GRCh37
NC_000017.9:g.44841459C>T	NCBI36
NG_023046.1:g.10783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696365.1:c.417+37G>A	ENSP00000512581.1:n.417+37G>A
ENST00000300408.8:c.454G>A MANE Select	ENSP00000300408.3:p.Asp152Asn
ENST00000419140.7:c.454G>A	ENSP00000393320.3:p.Asp152Asn
ENST00000434917.3:n.545G>A
ENST00000446735.6:c.292G>A	ENSP00000407828.2:p.Asp98Asn
ENST00000504124.6:c.454G>A	ENSP00000426433.3:p.Asp152Asn
ENST00000508009.6:n.545G>A
ENST00000511832.6:c.454G>A	ENSP00000425035.2:p.Asp152Asn
ENST00000512041.7:c.454G>A	ENSP00000422182.3:p.Asp152Asn
ENST00000614445.5:c.454G>A	ENSP00000479488.1:p.Asp152Asn
ENST00000617874.5:c.454G>A	ENSP00000484113.1:p.Asp152Asn
ENST00000300408.7:c.454G>A	ENSP00000300408.3:p.Asp152Asn
ENST00000393345.8:n.505G>A
ENST00000419140.6:c.454G>A	ENSP00000393320.2:p.Asp152Asn
ENST00000446735.5:c.454G>A	ENSP00000407828.1:p.Asp152Asn
ENST00000504124.5:c.454G>A	ENSP00000426433.2:p.Asp152Asn
ENST00000506273.1:n.409G>A
ENST00000508009.5:n.281G>A
ENST00000511832.5:c.417+37G>A	ENSP00000425035.1:n.417+37G>A
ENST00000512041.6:c.454G>A	ENSP00000422182.2:p.Asp152Asn
ENST00000614445.4:c.454G>A	ENSP00000479488.1:p.Asp152Asn
ENST00000617874.4:c.454G>A	ENSP00000484113.1:p.Asp152Asn
NM_001281496.1:c.454G>A	NP_001268425.1:p.Asp152Asn
NM_001281497.1:c.417+37G>A	NP_001268426.1:n.417+37G>A
NM_001281715.1:c.454G>A	NP_001268644.1:p.Asp152Asn
NM_002634.3:c.454G>A	NP_002625.1:p.Asp152Asn
XM_017024763.1:c.454G>A	XP_016880252.1:p.Asp152Asn
NM_002634.4:c.454G>A MANE Select	NP_002625.1:p.Asp152Asn
NM_001281496.2:c.454G>A	NP_001268425.1:p.Asp152Asn
NM_001281497.2:c.417+37G>A	NP_001268426.1:n.417+37G>A
NM_001281715.2:c.454G>A	NP_001268644.1:p.Asp152Asn