Canonical Allele Identifier: CA229493

Gene: PAH

Linked Data

• ClinVar Variation Id: 102635
• ClinVar RCV Id: RCV000088879 ; RCV003479001
• dbSNP Id: rs62507332
• MyVariant Identifiers: chr12:g.103288634A>C (hg19) ; chr12:g.102894856A>C (hg38)
• ERepo: CA229493/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894856A>C , CM000674.2:g.102894856A>C	GRCh38
NC_000012.11:g.103288634A>C , CM000674.1:g.103288634A>C	GRCh37
NC_000012.10:g.101812764A>C	NCBI36
NG_008690.1:g.27747T>G
NG_008690.2:g.68555T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.231T>G MANE Select	ENSP00000448059.1:p.Tyr77Ter
ENST00000307000.7:c.216T>G	ENSP00000303500.2:p.Tyr72Ter
ENST00000546844.1:c.231T>G	ENSP00000446658.1:p.Tyr77Ter
ENST00000548677.2:n.318T>G
ENST00000548928.1:n.153T>G
ENST00000549111.5:n.327T>G
ENST00000550978.6:c.215T>G
ENST00000551337.5:c.231T>G	ENSP00000447620.1:p.Tyr77Ter
ENST00000551988.5:n.320T>G
ENST00000553106.5:c.231T>G	ENSP00000448059.1:p.Tyr77Ter
NM_000277.1:c.231T>G	NP_000268.1:p.Tyr77Ter
XM_011538422.1:c.231T>G	XP_011536724.1:p.Tyr77Ter
NM_000277.2:c.231T>G	NP_000268.1:p.Tyr77Ter
NM_001354304.1:c.231T>G	NP_001341233.1:p.Tyr77Ter
XM_017019370.2:c.231T>G	XP_016874859.1:p.Tyr77Ter
NM_000277.3:c.231T>G MANE Select	NP_000268.1:p.Tyr77Ter
NM_001354304.2:c.231T>G	NP_001341233.1:p.Tyr77Ter