Canonical Allele Identifier: CA645372267

Gene: PAH

Linked Data

• ClinVar Variation Id: 1693227
• ClinVar RCV Id: RCV002260486
• dbSNP Id: rs2136646020
• ERepo: CA645372267/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852821_102852822delinsCA , CM000674.2:g.102852821_102852822delinsCA	GRCh38
NC_000012.11:g.103246599_103246600delinsCA , CM000674.1:g.103246599_103246600delinsCA	GRCh37
NC_000012.10:g.101770729_101770730delinsCA	NCBI36
NG_008690.1:g.69781_69782delinsTG
NG_008690.2:g.110589_110590delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.835_836delinsTG MANE Select	ENSP00000448059.1:p.Pro279Cys
ENST00000307000.7:c.820_821delinsTG	ENSP00000303500.2:p.Pro274Cys
ENST00000549247.6:n.594_595delinsTG
ENST00000553106.5:c.835_836delinsTG	ENSP00000448059.1:p.Pro279Cys
NM_000277.1:c.835_836delinsTG	NP_000268.1:p.Pro279Cys
XM_011538422.1:c.835_836delinsTG	XP_011536724.1:p.Pro279Cys
NM_000277.2:c.835_836delinsTG	NP_000268.1:p.Pro279Cys
NM_001354304.1:c.835_836delinsTG	NP_001341233.1:p.Pro279Cys
NM_000277.3:c.835_836delinsTG MANE Select	NP_000268.1:p.Pro279Cys
NM_001354304.2:c.835_836delinsTG	NP_001341233.1:p.Pro279Cys