Canonical Allele Identifier: CA229526

Gene: PAH

Linked Data

• ClinVar Variation Id: 102659
• ClinVar RCV Id: RCV000088906
• dbSNP Id: rs199475571
• gnomAD v2: 12-103271310-G-A
• gnomAD v3: 12-102877532-G-A
• gnomAD v4: 12-102877532-G-A
• MyVariant Identifiers: chr12:g.103271310G>A (hg19) ; chr12:g.102877532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877532G>A , CM000674.2:g.102877532G>A	GRCh38
NC_000012.11:g.103271310G>A , CM000674.1:g.103271310G>A	GRCh37
NC_000012.10:g.101795440G>A	NCBI36
NG_008690.1:g.45071C>T
NG_008690.2:g.85879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.371C>T MANE Select	ENSP00000448059.1:p.Thr124Ile
ENST00000307000.7:c.356C>T	ENSP00000303500.2:p.Thr119Ile
ENST00000549111.5:n.467C>T
ENST00000550978.6:c.355C>T
ENST00000551337.5:c.371C>T	ENSP00000447620.1:p.Thr124Ile
ENST00000551988.5:n.460C>T
ENST00000553106.5:c.371C>T	ENSP00000448059.1:p.Thr124Ile
NM_000277.1:c.371C>T	NP_000268.1:p.Thr124Ile
XM_011538422.1:c.371C>T	XP_011536724.1:p.Thr124Ile
NM_000277.2:c.371C>T	NP_000268.1:p.Thr124Ile
NM_001354304.1:c.371C>T	NP_001341233.1:p.Thr124Ile
XM_017019370.2:c.371C>T	XP_016874859.1:p.Thr124Ile
NM_000277.3:c.371C>T MANE Select	NP_000268.1:p.Thr124Ile
NM_001354304.2:c.371C>T	NP_001341233.1:p.Thr124Ile