Canonical Allele Identifier: CA437774700

Gene: SLC51A PCYT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196229936C>T , CM000665.2:g.196229936C>T	GRCh38
NC_000003.11:g.195956807C>T , CM000665.1:g.195956807C>T	GRCh37
NC_000003.10:g.197441204C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152672.6:c.655C>T (SLC51A) MANE Select	NP_689885.4:p.Leu219=
ENST00000296327.10:c.655C>T (SLC51A) MANE Select	ENSP00000296327.5:p.Leu219=
NM_152672.5:c.655C>T (SLC51A)	NP_689885.4:p.Leu219=
ENST00000296327.9:c.655C>T (SLC51A)	ENSP00000296327.5:p.Leu219=
ENST00000419333.5:c.*78G>A (PCYT1A)	ENSP00000390968.1:n.*78G>A
ENST00000441879.5:c.487-15563G>A (PCYT1A)	ENSP00000392397.1:n.487-15563G>A
ENST00000471430.1:n.322C>T (SLC51A)
ENST00000475271.1:n.217C>T (SLC51A)
ENST00000475672.5:n.507C>T (SLC51A)
ENST00000484407.5:n.467C>T (SLC51A)