Allele Registry

Canonical Allele Identifier: CA386291604

Gene: PAH HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.102846913G>C

GRCh37 chr12:g.103240691G>C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846913G>C , CM000674.2:g.102846913G>C	GRCh38
NC_000012.11:g.103240691G>C , CM000674.1:g.103240691G>C	GRCh37
NC_000012.10:g.101764821G>C	NCBI36
NG_008690.1:g.75690C>G
NG_008690.2:g.116498C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.951C>G MANE Select	ENSP00000448059.1:p.Tyr317Ter
ENST00000307000.7:c.936C>G	ENSP00000303500.2:p.Tyr312Ter
ENST00000549247.6:n.710C>G
ENST00000551114.2:n.613C>G
ENST00000553106.5:c.951C>G	ENSP00000448059.1:p.Tyr317Ter
ENST00000635477.1:c.74-2482C>G
ENST00000635528.1:n.466C>G
NM_000277.1:c.951C>G	NP_000268.1:p.Tyr317Ter
XM_011538422.1:c.913-2482C>G	XP_011536724.1:n.913-2482C>G
NM_000277.2:c.951C>G	NP_000268.1:p.Tyr317Ter
NM_001354304.1:c.951C>G	NP_001341233.1:p.Tyr317Ter
NM_000277.3:c.951C>G MANE Select	NP_000268.1:p.Tyr317Ter
NM_001354304.2:c.951C>G	NP_001341233.1:p.Tyr317Ter

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