Canonical Allele Identifier: CA229601794

Gene: SLC37A4

Linked Data

• dbSNP Id: rs547942724
• gnomAD v2: 11-118900658-T-C
• gnomAD v3: 11-119029948-T-C
• gnomAD v4: 11-119029948-T-C
• MyVariant Identifiers: chr11:g.118900658T>C (hg19) ; chr11:g.119029948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029948T>C , CM000673.2:g.119029948T>C	GRCh38
NC_000011.9:g.118900658T>C , CM000673.1:g.118900658T>C	GRCh37
NC_000011.8:g.118405868T>C	NCBI36
NG_013331.1:g.5959A>G , LRG_187:g.5959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.35-384A>G
ENST00000697846.1:n.35-384A>G
ENST00000697847.1:n.35-384A>G
ENST00000697848.1:n.35-384A>G
ENST00000697850.1:n.35-384A>G
ENST00000638186.1:n.27A>G
ENST00000638360.1:n.43-384A>G
ENST00000638925.1:n.42-384A>G
ENST00000650539.1:n.210+222A>G
ENST00000330775.9:c.-195-384A>G	ENSP00000476242.2:n.-195-384A>G
ENST00000357590.9:c.-195-384A>G	ENSP00000476176.2:n.-195-384A>G
ENST00000525039.5:n.229-384A>G
ENST00000525102.5:n.562+284A>G
ENST00000527992.5:n.33-384A>G
ENST00000530407.5:n.25-384A>G
ENST00000532085.1:n.916A>G
ENST00000538950.5:c.-344-384A>G	ENSP00000475991.2:n.-344-384A>G
ENST00000545985.5:c.-196+284A>G	ENSP00000475241.2:n.-196+284A>G
NM_001164277.1:c.-196+284A>G , LRG_187t1:c.-196+284A>G	NP_001157749.1:n.-196+284A>G
NM_001164278.1:c.-195-384A>G	NP_001157750.1:n.-195-384A>G
NM_001164279.1:c.-344-384A>G	NP_001157751.1:n.-344-384A>G
NM_001467.5:c.-195-384A>G	NP_001458.1:n.-195-384A>G
NM_001164278.2:c.-195-384A>G	NP_001157750.1:n.-195-384A>G
NM_001164279.2:c.-344-384A>G	NP_001157751.1:n.-344-384A>G
NM_001467.6:c.-195-384A>G	NP_001458.1:n.-195-384A>G
NM_001164277.2:c.-196+284A>G MANE Select	NP_001157749.1:n.-196+284A>G