Canonical Allele Identifier: CA15592436

Gene: SLC1A1

Linked Data

• dbSNP Id: rs13289148
• gnomAD v2: 9-4507275-T-C
• gnomAD v3: 9-4507275-T-C
• gnomAD v4: 9-4507275-T-C
• MyVariant Identifiers: chr9:g.4507275T>C (hg19) ; chr9:g.4507275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4507275T>C , CM000671.2:g.4507275T>C	GRCh38
NC_000009.11:g.4507275T>C , CM000671.1:g.4507275T>C	GRCh37
NC_000009.10:g.4497275T>C	NCBI36
NG_017044.1:g.21849T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262352.8:c.91+16505T>C MANE Select	ENSP00000262352.3:n.91+16505T>C
ENST00000262352.7:c.91+16505T>C	ENSP00000262352.3:n.91+16505T>C
NM_004170.5:c.91+16505T>C	NP_004161.4:n.91+16505T>C
XM_011518007.1:c.92-12553T>C	XP_011516309.1:n.92-12553T>C
XM_011518010.1:c.91+16505T>C	XP_011516312.1:n.91+16505T>C
XM_017015042.1:c.92-12553T>C	XP_016870531.1:n.92-12553T>C
XM_017015043.1:c.91+16505T>C	XP_016870532.1:n.91+16505T>C
NM_004170.6:c.91+16505T>C MANE Select	NP_004161.4:n.91+16505T>C