Canonical Allele Identifier: CA386493073

Gene: PAH

Linked Data

• gnomAD v4: 12-102840489-G-A
• MyVariant Identifiers: chr12:g.103234267G>A (hg19) ; chr12:g.102840489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840489G>A , CM000674.2:g.102840489G>A	GRCh38
NC_000012.11:g.103234267G>A , CM000674.1:g.103234267G>A	GRCh37
NC_000012.10:g.101758397G>A	NCBI36
NG_008690.1:g.82114C>T
NG_008690.2:g.122922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1226C>T MANE Select	ENSP00000448059.1:p.Pro409Leu
ENST00000307000.7:c.1211C>T	ENSP00000303500.2:p.Pro404Leu
ENST00000551114.2:n.888C>T
ENST00000553106.5:c.1226C>T	ENSP00000448059.1:p.Pro409Leu
ENST00000635477.1:c.330C>T
ENST00000635528.1:n.741C>T
NM_000277.1:c.1226C>T	NP_000268.1:p.Pro409Leu
XM_011538422.1:c.1169C>T	XP_011536724.1:p.Pro390Leu
NM_000277.2:c.1226C>T	NP_000268.1:p.Pro409Leu
NM_001354304.1:c.1226C>T	NP_001341233.1:p.Pro409Leu
NM_000277.3:c.1226C>T MANE Select	NP_000268.1:p.Pro409Leu
NM_001354304.2:c.1226C>T	NP_001341233.1:p.Pro409Leu