Canonical Allele Identifier: CA382897857

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026037-A-G
• MyVariant Identifiers: chr11:g.118896747A>G (hg19) ; chr11:g.119026037A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026037A>G , CM000673.2:g.119026037A>G	GRCh38
NC_000011.9:g.118896747A>G , CM000673.1:g.118896747A>G	GRCh37
NC_000011.8:g.118401957A>G	NCBI36
NG_013331.1:g.9869T>C , LRG_187:g.9869T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1058T>C
ENST00000697845.1:n.1838T>C
ENST00000697846.1:n.1058T>C
ENST00000697847.1:n.1202-280T>C
ENST00000697848.1:n.1144T>C
ENST00000697849.1:n.2953T>C
ENST00000697850.1:n.1144T>C
ENST00000697851.1:n.2752T>C
ENST00000638186.1:n.1218T>C
ENST00000638360.1:n.1050T>C
ENST00000638925.1:n.1183T>C
ENST00000650539.1:n.1320T>C
ENST00000330775.9:c.914T>C	ENSP00000476242.2:p.Leu305Pro
ENST00000357590.9:c.914T>C	ENSP00000476176.2:p.Leu305Pro
ENST00000524428.5:n.1150T>C
ENST00000525039.5:n.1338T>C
ENST00000525102.5:n.1672T>C
ENST00000525372.5:n.1012T>C
ENST00000526275.5:n.1696T>C
ENST00000527992.5:n.1142T>C
ENST00000529510.5:n.602T>C
ENST00000530407.5:n.1064T>C
ENST00000532085.1:n.4295T>C
ENST00000538950.5:c.695T>C	ENSP00000475991.2:p.Leu232Pro
ENST00000545985.5:c.914T>C	ENSP00000475241.2:p.Leu305Pro
NM_001164277.1:c.914T>C , LRG_187t1:c.914T>C	NP_001157749.1:p.Leu305Pro
NM_001164278.1:c.914T>C	NP_001157750.1:p.Leu305Pro
NM_001164279.1:c.695T>C	NP_001157751.1:p.Leu232Pro
NM_001164280.1:c.914T>C	NP_001157752.1:p.Leu305Pro
NM_001467.5:c.914T>C	NP_001458.1:p.Leu305Pro
NM_001164278.2:c.914T>C	NP_001157750.1:p.Leu305Pro
NM_001164279.2:c.695T>C	NP_001157751.1:p.Leu232Pro
NM_001164280.2:c.914T>C	NP_001157752.1:p.Leu305Pro
NM_001467.6:c.914T>C	NP_001458.1:p.Leu305Pro
NM_001164277.2:c.914T>C MANE Select	NP_001157749.1:p.Leu305Pro