Canonical Allele Identifier: CA382905747

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119028337-A-G
• MyVariant Identifiers: chr11:g.118899047A>G (hg19) ; chr11:g.119028337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028337A>G , CM000673.2:g.119028337A>G	GRCh38
NC_000011.9:g.118899047A>G , CM000673.1:g.118899047A>G	GRCh37
NC_000011.8:g.118404257A>G	NCBI36
NG_013331.1:g.7570T>C , LRG_187:g.7570T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.467T>C
ENST00000697845.1:n.391T>C
ENST00000697846.1:n.467T>C
ENST00000697847.1:n.467T>C
ENST00000697848.1:n.467T>C
ENST00000697849.1:n.1506T>C
ENST00000697850.1:n.467T>C
ENST00000697851.1:n.1506T>C
ENST00000638186.1:n.541T>C
ENST00000638360.1:n.475T>C
ENST00000638925.1:n.474T>C
ENST00000650539.1:n.643T>C
ENST00000330775.9:c.238T>C	ENSP00000476242.2:p.Phe80Leu
ENST00000357590.9:c.238T>C	ENSP00000476176.2:p.Phe80Leu
ENST00000524428.5:n.238T>C
ENST00000525039.5:n.661T>C
ENST00000525102.5:n.995T>C
ENST00000525372.5:n.238T>C
ENST00000525787.1:n.533T>C
ENST00000526275.5:n.698T>C
ENST00000526626.6:n.344-465T>C
ENST00000527992.5:n.465T>C
ENST00000529510.5:n.256T>C
ENST00000530407.5:n.387T>C
ENST00000532085.1:n.2527T>C
ENST00000532888.6:n.533T>C
ENST00000534384.1:n.458T>C
ENST00000538950.5:c.19T>C	ENSP00000475991.2:p.Phe7Leu
ENST00000545985.5:c.238T>C	ENSP00000475241.2:p.Phe80Leu
NM_001164277.1:c.238T>C , LRG_187t1:c.238T>C	NP_001157749.1:p.Phe80Leu
NM_001164278.1:c.238T>C	NP_001157750.1:p.Phe80Leu
NM_001164279.1:c.19T>C	NP_001157751.1:p.Phe7Leu
NM_001164280.1:c.238T>C	NP_001157752.1:p.Phe80Leu
NM_001467.5:c.238T>C	NP_001458.1:p.Phe80Leu
NM_001164278.2:c.238T>C	NP_001157750.1:p.Phe80Leu
NM_001164279.2:c.19T>C	NP_001157751.1:p.Phe7Leu
NM_001164280.2:c.238T>C	NP_001157752.1:p.Phe80Leu
NM_001467.6:c.238T>C	NP_001458.1:p.Phe80Leu
NM_001164277.2:c.238T>C MANE Select	NP_001157749.1:p.Phe80Leu