Canonical Allele Identifier: CA382902094

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027683-T-G
• MyVariant Identifiers: chr11:g.118898393T>G (hg19) ; chr11:g.119027683T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027683T>G , CM000673.2:g.119027683T>G	GRCh38
NC_000011.9:g.118898393T>G , CM000673.1:g.118898393T>G	GRCh37
NC_000011.8:g.118403603T>G	NCBI36
NG_013331.1:g.8223A>C , LRG_187:g.8223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.800A>C
ENST00000697845.1:n.724A>C
ENST00000697846.1:n.800A>C
ENST00000697847.1:n.800A>C
ENST00000697848.1:n.800A>C
ENST00000697849.1:n.1839A>C
ENST00000697850.1:n.800A>C
ENST00000697851.1:n.2160A>C
ENST00000638186.1:n.874A>C
ENST00000638360.1:n.706A>C
ENST00000638925.1:n.807A>C
ENST00000650539.1:n.976A>C
ENST00000330775.9:c.570A>C	ENSP00000476242.2:p.Glu190Asp
ENST00000357590.9:c.570A>C	ENSP00000476176.2:p.Glu190Asp
ENST00000524428.5:n.892A>C
ENST00000525039.5:n.994A>C
ENST00000525102.5:n.1328A>C
ENST00000525372.5:n.571A>C
ENST00000526275.5:n.1352A>C
ENST00000526626.6:n.533A>C
ENST00000527992.5:n.798A>C
ENST00000529510.5:n.399+511A>C
ENST00000530407.5:n.720A>C
ENST00000532085.1:n.3181A>C
ENST00000532888.6:n.866A>C
ENST00000538950.5:c.351A>C	ENSP00000475991.2:p.Glu117Asp
ENST00000545985.5:c.570A>C	ENSP00000475241.2:p.Glu190Asp
NM_001164277.1:c.570A>C , LRG_187t1:c.570A>C	NP_001157749.1:p.Glu190Asp
NM_001164278.1:c.570A>C	NP_001157750.1:p.Glu190Asp
NM_001164279.1:c.351A>C	NP_001157751.1:p.Glu117Asp
NM_001164280.1:c.570A>C	NP_001157752.1:p.Glu190Asp
NM_001467.5:c.570A>C	NP_001458.1:p.Glu190Asp
NM_001164278.2:c.570A>C	NP_001157750.1:p.Glu190Asp
NM_001164279.2:c.351A>C	NP_001157751.1:p.Glu117Asp
NM_001164280.2:c.570A>C	NP_001157752.1:p.Glu190Asp
NM_001467.6:c.570A>C	NP_001458.1:p.Glu190Asp
NM_001164277.2:c.570A>C MANE Select	NP_001157749.1:p.Glu190Asp