Canonical Allele Identifier: CA229264

Gene: PAH

Linked Data

• ClinVar Variation Id: 102465
• ClinVar RCV Id: RCV000088696 ; RCV002259580
• dbSNP Id: rs62516061
• MyVariant Identifiers: chr12:g.103238173G>A (hg19) ; chr12:g.102844395G>A (hg38)
• ERepo: CA229264/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844395G>A , CM000674.2:g.102844395G>A	GRCh38
NC_000012.11:g.103238173G>A , CM000674.1:g.103238173G>A	GRCh37
NC_000012.10:g.101762303G>A	NCBI36
NG_008690.1:g.78208C>T
NG_008690.2:g.119016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1006C>T MANE Select	ENSP00000448059.1:p.Gln336Ter
ENST00000307000.7:c.991C>T	ENSP00000303500.2:p.Gln331Ter
ENST00000549247.6:n.765C>T
ENST00000551114.2:n.668C>T
ENST00000553106.5:c.1006C>T	ENSP00000448059.1:p.Gln336Ter
ENST00000635477.1:c.110C>T
ENST00000635528.1:n.521C>T
NM_000277.1:c.1006C>T	NP_000268.1:p.Gln336Ter
XM_011538422.1:c.949C>T	XP_011536724.1:p.Gln317Ter
NM_000277.2:c.1006C>T	NP_000268.1:p.Gln336Ter
NM_001354304.1:c.1006C>T	NP_001341233.1:p.Gln336Ter
NM_000277.3:c.1006C>T MANE Select	NP_000268.1:p.Gln336Ter
NM_001354304.2:c.1006C>T	NP_001341233.1:p.Gln336Ter