Canonical Allele Identifier: CA386295520
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103246662A>C (hg19) chr12:g.102852884A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852884A>C , CM000674.2:g.102852884A>C GRCh38
NC_000012.11:g.103246662A>C , CM000674.1:g.103246662A>C GRCh37
NC_000012.10:g.101770792A>C NCBI36
NG_008690.1:g.69719T>G
NG_008690.2:g.110527T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.773T>G MANE Select ENSP00000448059.1:p.Leu258Arg
ENST00000307000.7:c.758T>G ENSP00000303500.2:p.Leu253Arg
ENST00000549247.6:n.532T>G
ENST00000553106.5:c.773T>G ENSP00000448059.1:p.Leu258Arg
NM_000277.1:c.773T>G NP_000268.1:p.Leu258Arg
XM_011538422.1:c.773T>G XP_011536724.1:p.Leu258Arg
NM_000277.2:c.773T>G NP_000268.1:p.Leu258Arg
NM_001354304.1:c.773T>G NP_001341233.1:p.Leu258Arg
NM_000277.3:c.773T>G MANE Select NP_000268.1:p.Leu258Arg
NM_001354304.2:c.773T>G NP_001341233.1:p.Leu258Arg
Search 100 bp 5'
Search 100 bp 3'