Canonical Allele Identifier: CA229424
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102584
ClinVar RCV Id: RCV000088822 RCV000993606
dbSNP Id: rs199475670
MyVariant Identifiers: chr12:g.103234222A>G (hg19) chr12:g.102840444A>G (hg38)
ERepo: CA229424/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840444A>G , CM000674.2:g.102840444A>G GRCh38
NC_000012.11:g.103234222A>G , CM000674.1:g.103234222A>G GRCh37
NC_000012.10:g.101758352A>G NCBI36
NG_008690.1:g.82159T>C
NG_008690.2:g.122967T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1271T>C MANE Select ENSP00000448059.1:p.Leu424Ser
ENST00000307000.7:c.1256T>C ENSP00000303500.2:p.Leu419Ser
ENST00000551114.2:n.933T>C
ENST00000553106.5:c.1271T>C ENSP00000448059.1:p.Leu424Ser
ENST00000635477.1:c.375T>C
ENST00000635528.1:n.786T>C
NM_000277.1:c.1271T>C NP_000268.1:p.Leu424Ser
XM_011538422.1:c.1214T>C XP_011536724.1:p.Leu405Ser
NM_000277.2:c.1271T>C NP_000268.1:p.Leu424Ser
NM_001354304.1:c.1271T>C NP_001341233.1:p.Leu424Ser
NM_000277.3:c.1271T>C MANE Select NP_000268.1:p.Leu424Ser
NM_001354304.2:c.1271T>C NP_001341233.1:p.Leu424Ser
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