Canonical Allele Identifier: CA382904221

Gene: SLC37A4

Linked Data

• MyVariant Identifiers: chr11:g.118898577A>C (hg19) ; chr11:g.119027867A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027867A>C , CM000673.2:g.119027867A>C	GRCh38
NC_000011.9:g.118898577A>C , CM000673.1:g.118898577A>C	GRCh37
NC_000011.8:g.118403787A>C	NCBI36
NG_013331.1:g.8040T>G , LRG_187:g.8040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.616T>G
ENST00000697845.1:n.540T>G
ENST00000697846.1:n.616T>G
ENST00000697847.1:n.616T>G
ENST00000697848.1:n.616T>G
ENST00000697849.1:n.1655T>G
ENST00000697850.1:n.616T>G
ENST00000697851.1:n.1976T>G
ENST00000638186.1:n.690T>G
ENST00000638360.1:n.619-97T>G
ENST00000638925.1:n.623T>G
ENST00000650539.1:n.792T>G
ENST00000330775.9:c.387T>G	ENSP00000476242.2:p.Phe129Leu
ENST00000357590.9:c.387T>G	ENSP00000476176.2:p.Phe129Leu
ENST00000524428.5:n.708T>G
ENST00000525039.5:n.810T>G
ENST00000525102.5:n.1144T>G
ENST00000525372.5:n.387T>G
ENST00000525787.1:n.1003T>G
ENST00000526275.5:n.1168T>G
ENST00000526626.6:n.349T>G
ENST00000527992.5:n.614T>G
ENST00000529510.5:n.399+327T>G
ENST00000530407.5:n.536T>G
ENST00000532085.1:n.2997T>G
ENST00000532888.6:n.682T>G
ENST00000538950.5:c.168T>G	ENSP00000475991.2:p.Phe56Leu
ENST00000545985.5:c.387T>G	ENSP00000475241.2:p.Phe129Leu
NM_001164277.1:c.387T>G , LRG_187t1:c.387T>G	NP_001157749.1:p.Phe129Leu
NM_001164278.1:c.387T>G	NP_001157750.1:p.Phe129Leu
NM_001164279.1:c.168T>G	NP_001157751.1:p.Phe56Leu
NM_001164280.1:c.387T>G	NP_001157752.1:p.Phe129Leu
NM_001467.5:c.387T>G	NP_001458.1:p.Phe129Leu
NM_001164278.2:c.387T>G	NP_001157750.1:p.Phe129Leu
NM_001164279.2:c.168T>G	NP_001157751.1:p.Phe56Leu
NM_001164280.2:c.387T>G	NP_001157752.1:p.Phe129Leu
NM_001467.6:c.387T>G	NP_001458.1:p.Phe129Leu
NM_001164277.2:c.387T>G MANE Select	NP_001157749.1:p.Phe129Leu