Canonical Allele Identifier: CA229834
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102884
ClinVar RCV Id: RCV000089145 RCV000993621
dbSNP Id: rs62642910
MyVariant Identifiers: chr12:g.103245493G>C (hg19) chr12:g.102851715G>C (hg38)
ERepo: CA229834/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851715G>C , CM000674.2:g.102851715G>C GRCh38
NC_000012.11:g.103245493G>C , CM000674.1:g.103245493G>C GRCh37
NC_000012.10:g.101769623G>C NCBI36
NG_008690.1:g.70888C>G
NG_008690.2:g.111696C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.884C>G MANE Select ENSP00000448059.1:p.Ser295Ter
ENST00000307000.7:c.869C>G ENSP00000303500.2:p.Ser290Ter
ENST00000549247.6:n.643C>G
ENST00000551114.2:n.546C>G
ENST00000553106.5:c.884C>G ENSP00000448059.1:p.Ser295Ter
ENST00000635477.1:c.45C>G
NM_000277.1:c.884C>G NP_000268.1:p.Ser295Ter
XM_011538422.1:c.884C>G XP_011536724.1:p.Ser295Ter
NM_000277.2:c.884C>G NP_000268.1:p.Ser295Ter
NM_001354304.1:c.884C>G NP_001341233.1:p.Ser295Ter
NM_000277.3:c.884C>G MANE Select NP_000268.1:p.Ser295Ter
NM_001354304.2:c.884C>G NP_001341233.1:p.Ser295Ter
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