Canonical Allele Identifier: CA1829375998
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI

Linked Data

dbSNP Id: rs1819578955

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4567286A>C , CM000671.2:g.4567286A>C GRCh38
NC_000009.11:g.4567286A>C , CM000671.1:g.4567286A>C GRCh37
NC_000009.10:g.4557286A>C NCBI36
NG_017044.1:g.81860A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262352.8:c.484-383A>C (SLC1A1) MANE Select ENSP00000262352.3:n.484-383A>C
ENST00000262352.7:c.484-383A>C (SLC1A1) ENSP00000262352.3:n.484-383A>C
ENST00000485616.5:c.*782-12898T>G (SPATA6L) ENSP00000420003.1:n.*782-12898T>G
NM_004170.5:c.484-383A>C (SLC1A1) NP_004161.4:n.484-383A>C
XM_011518007.1:c.553-383A>C (SLC1A1) XP_011516309.1:n.553-383A>C
XM_011518008.1:c.493-383A>C (SLC1A1) XP_011516310.1:n.493-383A>C
XM_011518009.1:c.424-383A>C (SLC1A1) XP_011516311.1:n.424-383A>C
XM_011518010.1:c.343-383A>C (SLC1A1) XP_011516312.1:n.343-383A>C
XM_011518008.3:c.493-383A>C (SLC1A1) XP_011516310.1:n.493-383A>C
XM_011518009.3:c.424-383A>C (SLC1A1) XP_011516311.1:n.424-383A>C
XM_017014882.2:c.*2-26096T>G (SPATA6L) XP_016870371.1:n.*2-26096T>G
XM_017015042.1:c.553-383A>C (SLC1A1) XP_016870531.1:n.553-383A>C
XM_017015043.1:c.484-383A>C (SLC1A1) XP_016870532.1:n.484-383A>C
XR_001746335.2:n.1479-26096T>G (SPATA6L)
NM_004170.6:c.484-383A>C (SLC1A1) MANE Select NP_004161.4:n.484-383A>C