Canonical Allele Identifier: CA682813536
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1175200705
gnomAD v3: 12-102865820-A-G
gnomAD v4: 12-102865820-A-G
MyVariant Identifiers: chr12:g.103259598A>G (hg19) chr12:g.102865820A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865820A>G , CM000674.2:g.102865820A>G GRCh38
NC_000012.11:g.103259598A>G , CM000674.1:g.103259598A>G GRCh37
NC_000012.10:g.101783728A>G NCBI36
NG_008690.1:g.56783T>C
NG_008690.2:g.97591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+776T>C MANE Select ENSP00000448059.1:n.509+776T>C
ENST00000307000.7:c.494+776T>C ENSP00000303500.2:n.494+776T>C
ENST00000549111.5:n.605+776T>C
ENST00000551988.5:n.531-10488T>C
ENST00000553106.5:c.509+776T>C ENSP00000448059.1:n.509+776T>C
NM_000277.1:c.509+776T>C NP_000268.1:n.509+776T>C
XM_011538422.1:c.509+776T>C XP_011536724.1:n.509+776T>C
NM_000277.2:c.509+776T>C NP_000268.1:n.509+776T>C
NM_001354304.1:c.509+776T>C NP_001341233.1:n.509+776T>C
XM_017019370.2:c.509+776T>C XP_016874859.1:n.509+776T>C
NM_000277.3:c.509+776T>C MANE Select NP_000268.1:n.509+776T>C
NM_001354304.2:c.509+776T>C NP_001341233.1:n.509+776T>C
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