Canonical Allele Identifier: CA229367

Gene: PAH

Linked Data

• ClinVar Variation Id: 102542
• ClinVar RCV Id: RCV000088776 ; RCV001269039
• dbSNP Id: rs199475629
• MyVariant Identifiers: chr12:g.103237459_103237460del (hg19) ; chr12:g.102843681_102843682del (hg38)
• ERepo: CA229367/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843682_102843683del , CM000674.2:g.102843682_102843683del	GRCh38
NC_000012.11:g.103237460_103237461del , CM000674.1:g.103237460_103237461del	GRCh37
NC_000012.10:g.101761590_101761591del	NCBI36
NG_008690.1:g.78921_78922del
NG_008690.2:g.119729_119730del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1163_1164del MANE Select	ENSP00000448059.1:p.Val388GlyfsTer5
ENST00000307000.7:c.1148_1149del	ENSP00000303500.2:p.Val383GlyfsTer5
ENST00000549247.6:n.922_923del
ENST00000551114.2:n.825_826del
ENST00000553106.5:c.1163_1164del	ENSP00000448059.1:p.Val388GlyfsTer5
ENST00000635477.1:c.267_268del
ENST00000635528.1:n.678_679del
NM_000277.1:c.1163_1164del	NP_000268.1:p.Val388GlyfsTer5
XM_011538422.1:c.1106_1107del	XP_011536724.1:p.Val369GlyfsTer5
NM_000277.2:c.1163_1164del	NP_000268.1:p.Val388GlyfsTer5
NM_001354304.1:c.1163_1164del	NP_001341233.1:p.Val388GlyfsTer5
NM_000277.3:c.1163_1164del MANE Select	NP_000268.1:p.Val388GlyfsTer5
NM_001354304.2:c.1163_1164del	NP_001341233.1:p.Val388GlyfsTer5