Canonical Allele Identifier: CA229543

Gene: PAH

Linked Data

• ClinVar Variation Id: 102670
• ClinVar RCV Id: RCV000088918 ; RCV000595460
• dbSNP Id: rs199475694
• MyVariant Identifiers: chr12:g.103271241G>A (hg19) ; chr12:g.102877463G>A (hg38)
• ERepo: CA229543/MONDO:0009861/006
• PubMed: PMID:26322415 ; PMID:26503515

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877463G>A , CM000674.2:g.102877463G>A	GRCh38
NC_000012.11:g.103271241G>A , CM000674.1:g.103271241G>A	GRCh37
NC_000012.10:g.101795371G>A	NCBI36
NG_008690.1:g.45140C>T
NG_008690.2:g.85948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.440C>T MANE Select	ENSP00000448059.1:p.Pro147Leu
ENST00000307000.7:c.425C>T	ENSP00000303500.2:p.Pro142Leu
ENST00000549111.5:n.536C>T
ENST00000550978.6:c.424C>T
ENST00000551988.5:n.529C>T
ENST00000553106.5:c.440C>T	ENSP00000448059.1:p.Pro147Leu
NM_000277.1:c.440C>T	NP_000268.1:p.Pro147Leu
XM_011538422.1:c.440C>T	XP_011536724.1:p.Pro147Leu
NM_000277.2:c.440C>T	NP_000268.1:p.Pro147Leu
NM_001354304.1:c.440C>T	NP_001341233.1:p.Pro147Leu
XM_017019370.2:c.440C>T	XP_016874859.1:p.Pro147Leu
NM_000277.3:c.440C>T MANE Select	NP_000268.1:p.Pro147Leu
NM_001354304.2:c.440C>T	NP_001341233.1:p.Pro147Leu