Canonical Allele Identifier: CA2830536219

Gene: PCYT1A SLC51A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196239751A>C , CM000665.2:g.196239751A>C	GRCh38
NC_000003.11:g.195966622A>C , CM000665.1:g.195966622A>C	GRCh37
NC_000003.10:g.197451019A>C	NCBI36
NG_042817.1:g.53002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431016.6:c.709-16T>G (PCYT1A) MANE Select	ENSP00000394617.1:n.709-16T>G
ENST00000292823.6:c.709-16T>G (PCYT1A)	ENSP00000292823.2:n.709-16T>G
ENST00000411591.5:c.709-16T>G (PCYT1A)	ENSP00000400430.1:n.709-16T>G
ENST00000415111.1:c.58-2743A>C (SLC51A)	ENSP00000409560.1:n.58-2743A>C
ENST00000419333.5:c.709-16T>G (PCYT1A)	ENSP00000390968.1:n.709-16T>G
ENST00000431016.5:c.709-16T>G (PCYT1A)	ENSP00000394617.1:n.709-16T>G
ENST00000441879.5:c.486+7616T>G (PCYT1A)	ENSP00000392397.1:n.486+7616T>G
ENST00000460827.1:n.254T>G (PCYT1A)
ENST00000496737.1:n.418-870A>C (SLC51A)
NM_001312673.1:c.709-16T>G (PCYT1A)	NP_001299602.1:n.709-16T>G
NM_005017.2:c.709-16T>G (PCYT1A)	NP_005008.2:n.709-16T>G
NM_005017.3:c.709-16T>G (PCYT1A)	NP_005008.2:n.709-16T>G
NM_001312673.2:c.709-16T>G (PCYT1A) MANE Select	NP_001299602.1:n.709-16T>G
NM_005017.4:c.709-16T>G (PCYT1A)	NP_005008.2:n.709-16T>G