Canonical Allele Identifier: CA220577

Gene: PAH

Linked Data

• ClinVar Variation Id: 92730
• ClinVar RCV Id: RCV000078505 ; RCV001201306
• dbSNP Id: rs62507322
• gnomAD v3: 12-102840516-C-T
• gnomAD v4: 12-102840516-C-T
• MyVariant Identifiers: chr12:g.103234294C>T (hg19) ; chr12:g.102840516C>T (hg38)
• ERepo: CA220577/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840516C>T , CM000674.2:g.102840516C>T	GRCh38
NC_000012.11:g.103234294C>T , CM000674.1:g.103234294C>T	GRCh37
NC_000012.10:g.101758424C>T	NCBI36
NG_008690.1:g.82087G>A
NG_008690.2:g.122895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1200-1G>A MANE Select	ENSP00000448059.1:n.1200-1G>A
ENST00000307000.7:c.1185-1G>A	ENSP00000303500.2:n.1185-1G>A
ENST00000549247.6:n.959-1G>A
ENST00000551114.2:n.862-1G>A
ENST00000553106.5:c.1200-1G>A	ENSP00000448059.1:n.1200-1G>A
ENST00000635477.1:c.304-1G>A
ENST00000635528.1:n.715-1G>A
NM_000277.1:c.1200-1G>A	NP_000268.1:n.1200-1G>A
XM_011538422.1:c.1143-1G>A	XP_011536724.1:n.1143-1G>A
NM_000277.2:c.1200-1G>A	NP_000268.1:n.1200-1G>A
NM_001354304.1:c.1200-1G>A	NP_001341233.1:n.1200-1G>A
NM_000277.3:c.1200-1G>A MANE Select	NP_000268.1:n.1200-1G>A
NM_001354304.2:c.1200-1G>A	NP_001341233.1:n.1200-1G>A