Canonical Allele Identifier: CA229272

Gene: PAH

Linked Data

• ClinVar Variation Id: 102470
• ClinVar RCV Id: RCV000088701 ; RCV002259581
• dbSNP Id: rs62517200
• MyVariant Identifiers: chr12:g.103238158T>A (hg19) ; chr12:g.102844380T>A (hg38)
• ERepo: CA229272/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844380T>A , CM000674.2:g.102844380T>A	GRCh38
NC_000012.11:g.103238158T>A , CM000674.1:g.103238158T>A	GRCh37
NC_000012.10:g.101762288T>A	NCBI36
NG_008690.1:g.78223A>T
NG_008690.2:g.119031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1021A>T MANE Select	ENSP00000448059.1:p.Lys341Ter
ENST00000307000.7:c.1006A>T	ENSP00000303500.2:p.Lys336Ter
ENST00000549247.6:n.780A>T
ENST00000551114.2:n.683A>T
ENST00000553106.5:c.1021A>T	ENSP00000448059.1:p.Lys341Ter
ENST00000635477.1:c.125A>T
ENST00000635528.1:n.536A>T
NM_000277.1:c.1021A>T	NP_000268.1:p.Lys341Ter
XM_011538422.1:c.964A>T	XP_011536724.1:p.Lys322Ter
NM_000277.2:c.1021A>T	NP_000268.1:p.Lys341Ter
NM_001354304.1:c.1021A>T	NP_001341233.1:p.Lys341Ter
NM_000277.3:c.1021A>T MANE Select	NP_000268.1:p.Lys341Ter
NM_001354304.2:c.1021A>T	NP_001341233.1:p.Lys341Ter