Canonical Allele Identifier: CA602178120

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1237753138
• gnomAD v2: 11-118901067-C-T
• gnomAD v3: 11-119030357-C-T
• gnomAD v4: 11-119030357-C-T
• MyVariant Identifiers: chr11:g.118901067C>T (hg19) ; chr11:g.119030357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119030357C>T , CM000673.2:g.119030357C>T	GRCh38
NC_000011.9:g.118901067C>T , CM000673.1:g.118901067C>T	GRCh37
NC_000011.8:g.118406277C>T	NCBI36
NG_013331.1:g.5550G>A , LRG_187:g.5550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.34+492G>A
ENST00000697846.1:n.34+492G>A
ENST00000697847.1:n.34+492G>A
ENST00000697848.1:n.34+492G>A
ENST00000697850.1:n.34+492G>A
ENST00000638360.1:n.42+492G>A
ENST00000638925.1:n.41+492G>A
ENST00000650539.1:n.23G>A
ENST00000330775.9:c.-196+492G>A	ENSP00000476242.2:n.-196+492G>A
ENST00000357590.9:c.-196+191G>A	ENSP00000476176.2:n.-196+191G>A
ENST00000525039.5:n.228+191G>A
ENST00000525102.5:n.437G>A
ENST00000527992.5:n.32+492G>A
ENST00000530407.5:n.24+492G>A
ENST00000532085.1:n.507G>A
ENST00000538950.5:c.-345+492G>A	ENSP00000475991.2:n.-345+492G>A
ENST00000545985.5:c.-321G>A	ENSP00000475241.2:n.-321G>A
NM_001164277.1:c.-321G>A , LRG_187t1:c.-321G>A	NP_001157749.1:n.-321G>A
NM_001164278.1:c.-196+191G>A	NP_001157750.1:n.-196+191G>A
NM_001164279.1:c.-345+492G>A	NP_001157751.1:n.-345+492G>A
NM_001467.5:c.-196+492G>A	NP_001458.1:n.-196+492G>A
NM_001164278.2:c.-196+191G>A	NP_001157750.1:n.-196+191G>A
NM_001164279.2:c.-345+492G>A	NP_001157751.1:n.-345+492G>A
NM_001467.6:c.-196+492G>A	NP_001458.1:n.-196+492G>A
NM_001164277.2:c.-321G>A MANE Select	NP_001157749.1:n.-321G>A