Canonical Allele Identifier: CA16020757

Gene: PAH

Linked Data

• ClinVar Variation Id: 932263
• ClinVar RCV Id: RCV001199993
• dbSNP Id: rs1877430029
• MyVariant Identifiers: chr12:g.103288612T>A (hg19) ; chr12:g.102894834T>A (hg38)
• ERepo: CA16020757/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894834T>A , CM000674.2:g.102894834T>A	GRCh38
NC_000012.11:g.103288612T>A , CM000674.1:g.103288612T>A	GRCh37
NC_000012.10:g.101812742T>A	NCBI36
NG_008690.1:g.27769A>T
NG_008690.2:g.68577A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.253A>T MANE Select	ENSP00000448059.1:p.Lys85Ter
ENST00000307000.7:c.238A>T	ENSP00000303500.2:p.Lys80Ter
ENST00000546844.1:c.253A>T	ENSP00000446658.1:p.Lys85Ter
ENST00000548677.2:n.340A>T
ENST00000548928.1:n.175A>T
ENST00000549111.5:n.349A>T
ENST00000550978.6:c.237A>T
ENST00000551337.5:c.253A>T	ENSP00000447620.1:p.Lys85Ter
ENST00000551988.5:n.342A>T
ENST00000553106.5:c.253A>T	ENSP00000448059.1:p.Lys85Ter
NM_000277.1:c.253A>T	NP_000268.1:p.Lys85Ter
XM_011538422.1:c.253A>T	XP_011536724.1:p.Lys85Ter
NM_000277.2:c.253A>T	NP_000268.1:p.Lys85Ter
NM_001354304.1:c.253A>T	NP_001341233.1:p.Lys85Ter
XM_017019370.2:c.253A>T	XP_016874859.1:p.Lys85Ter
NM_000277.3:c.253A>T MANE Select	NP_000268.1:p.Lys85Ter
NM_001354304.2:c.253A>T	NP_001341233.1:p.Lys85Ter