Canonical Allele Identifier: CA1431556374

Gene: PCYT1A SLC51A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196237816C>A , CM000665.2:g.196237816C>A	GRCh38
NC_000003.11:g.195964687C>A , CM000665.1:g.195964687C>A	GRCh37
NC_000003.10:g.197449084C>A	NCBI36
NG_042817.1:g.54937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.*872G>T (PCYT1A) MANE Select	ENSP00000394617.1:n.*872G>T
ENST00000292823.6:c.*872G>T (PCYT1A)	ENSP00000292823.2:n.*872G>T
ENST00000415111.1:c.58-4678C>A (SLC51A)	ENSP00000409560.1:n.58-4678C>A
ENST00000419333.5:c.1084+892G>T (PCYT1A)	ENSP00000390968.1:n.1084+892G>T
ENST00000441879.5:c.486+9551G>T (PCYT1A)	ENSP00000392397.1:n.486+9551G>T
ENST00000496737.1:n.418-2805C>A (SLC51A)
NM_001312673.1:c.*872G>T (PCYT1A)	NP_001299602.1:n.*872G>T
NM_005017.3:c.*872G>T (PCYT1A)	NP_005008.2:n.*872G>T
NM_001312673.2:c.*872G>T (PCYT1A) MANE Select	NP_001299602.1:n.*872G>T
NM_005017.4:c.*872G>T (PCYT1A)	NP_005008.2:n.*872G>T