Canonical Allele Identifier: CA12978737

Gene: SLC1A1 SPATA6L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4561651G>A , CM000671.2:g.4561651G>A	GRCh38
NC_000009.11:g.4561651G>A , CM000671.1:g.4561651G>A	GRCh37
NC_000009.10:g.4551651G>A	NCBI36
NG_017044.1:g.76225G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004170.6:c.325+110G>A (SLC1A1) MANE Select	NP_004161.4:n.325+110G>A
ENST00000262352.8:c.325+110G>A (SLC1A1) MANE Select	ENSP00000262352.3:n.325+110G>A
NM_004170.5:c.325+110G>A (SLC1A1)	NP_004161.4:n.325+110G>A
ENST00000262352.7:c.325+110G>A (SLC1A1)	ENSP00000262352.3:n.325+110G>A
ENST00000485616.5:c.*782-7263C>T (SPATA6L)	ENSP00000420003.1:n.*782-7263C>T
ENST00000490167.1:n.369+110G>A (SLC1A1)
XM_011518007.1:c.394+110G>A (SLC1A1)	XP_011516309.1:n.394+110G>A
XM_011518008.1:c.334+110G>A (SLC1A1)	XP_011516310.1:n.334+110G>A
XM_011518008.3:c.334+110G>A (SLC1A1)	XP_011516310.1:n.334+110G>A
XM_011518009.1:c.265+110G>A (SLC1A1)	XP_011516311.1:n.265+110G>A
XM_011518009.3:c.265+110G>A (SLC1A1)	XP_011516311.1:n.265+110G>A
XM_011518010.1:c.184+110G>A (SLC1A1)	XP_011516312.1:n.184+110G>A
XM_017014882.2:c.*2-20461C>T (SPATA6L)	XP_016870371.1:n.*2-20461C>T
XM_017015042.1:c.394+110G>A (SLC1A1)	XP_016870531.1:n.394+110G>A
XM_017015043.1:c.325+110G>A (SLC1A1)	XP_016870532.1:n.325+110G>A
XR_001746335.2:n.1479-20461C>T (SPATA6L)