Canonical Allele Identifier: CA864773843

Gene: SLC1A1

Linked Data

• dbSNP Id: rs1313010357
• gnomAD v3: 9-4507438-G-T
• gnomAD v4: 9-4507438-G-T
• MyVariant Identifiers: chr9:g.4507438G>T (hg19) ; chr9:g.4507438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4507438G>T , CM000671.2:g.4507438G>T	GRCh38
NC_000009.11:g.4507438G>T , CM000671.1:g.4507438G>T	GRCh37
NC_000009.10:g.4497438G>T	NCBI36
NG_017044.1:g.22012G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.91+16668G>T MANE Select	ENSP00000262352.3:n.91+16668G>T
ENST00000262352.7:c.91+16668G>T	ENSP00000262352.3:n.91+16668G>T
NM_004170.5:c.91+16668G>T	NP_004161.4:n.91+16668G>T
XM_011518007.1:c.92-12390G>T	XP_011516309.1:n.92-12390G>T
XM_011518010.1:c.91+16668G>T	XP_011516312.1:n.91+16668G>T
XM_017015042.1:c.92-12390G>T	XP_016870531.1:n.92-12390G>T
XM_017015043.1:c.91+16668G>T	XP_016870532.1:n.91+16668G>T
NM_004170.6:c.91+16668G>T MANE Select	NP_004161.4:n.91+16668G>T