Canonical Allele Identifier: CA1618379
Gene: QPCT HGNC NCBI

Linked Data

dbSNP Id: rs2230299
gnomAD v2: 2-37579937-C-T
gnomAD v3: 2-37352794-C-T
gnomAD v4: 2-37352794-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37352794C>T , CM000664.2:g.37352794C>T GRCh38
NC_000002.11:g.37579937C>T , CM000664.1:g.37579937C>T GRCh37
NC_000002.10:g.37433441C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000338415.8:c.126C>T MANE Select ENSP00000344829.3:p.Tyr42=
ENST00000650442.1:c.-67C>T ENSP00000498156.1:n.-67C>T
ENST00000338415.7:c.126C>T ENSP00000344829.3:p.Tyr42=
ENST00000404976.5:c.121-6786C>T ENSP00000385391.1:n.121-6786C>T
ENST00000470075.1:n.130C>T
NM_012413.3:c.126C>T NP_036545.1:p.Tyr42=
NM_012413.4:c.126C>T MANE Select NP_036545.1:p.Tyr42=