Canonical Allele Identifier: CA382901260

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027008-C-G
• MyVariant Identifiers: chr11:g.118897718C>G (hg19) ; chr11:g.119027008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027008C>G , CM000673.2:g.119027008C>G	GRCh38
NC_000011.9:g.118897718C>G , CM000673.1:g.118897718C>G	GRCh37
NC_000011.8:g.118402928C>G	NCBI36
NG_013331.1:g.8898G>C , LRG_187:g.8898G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.943G>C
ENST00000697845.1:n.867G>C
ENST00000697846.1:n.943G>C
ENST00000697847.1:n.943G>C
ENST00000697848.1:n.943G>C
ENST00000697849.1:n.1982G>C
ENST00000697850.1:n.943G>C
ENST00000697851.1:n.2303G>C
ENST00000638186.1:n.1017G>C
ENST00000638360.1:n.849G>C
ENST00000638925.1:n.950G>C
ENST00000650539.1:n.1119G>C
ENST00000330775.9:c.713G>C	ENSP00000476242.2:p.Gly238Ala
ENST00000357590.9:c.713G>C	ENSP00000476176.2:p.Gly238Ala
ENST00000524428.5:n.1035G>C
ENST00000525039.5:n.1137G>C
ENST00000525102.5:n.1471G>C
ENST00000525372.5:n.714G>C
ENST00000526275.5:n.1495G>C
ENST00000526626.6:n.676G>C
ENST00000527992.5:n.941G>C
ENST00000529510.5:n.487G>C
ENST00000530407.5:n.863G>C
ENST00000532085.1:n.3324G>C
ENST00000532888.6:n.1009G>C
ENST00000538950.5:c.494G>C	ENSP00000475991.2:p.Gly165Ala
ENST00000545985.5:c.713G>C	ENSP00000475241.2:p.Gly238Ala
NM_001164277.1:c.713G>C , LRG_187t1:c.713G>C	NP_001157749.1:p.Gly238Ala
NM_001164278.1:c.713G>C	NP_001157750.1:p.Gly238Ala
NM_001164279.1:c.494G>C	NP_001157751.1:p.Gly165Ala
NM_001164280.1:c.713G>C	NP_001157752.1:p.Gly238Ala
NM_001467.5:c.713G>C	NP_001458.1:p.Gly238Ala
NM_001164278.2:c.713G>C	NP_001157750.1:p.Gly238Ala
NM_001164279.2:c.494G>C	NP_001157751.1:p.Gly165Ala
NM_001164280.2:c.713G>C	NP_001157752.1:p.Gly238Ala
NM_001467.6:c.713G>C	NP_001458.1:p.Gly238Ala
NM_001164277.2:c.713G>C MANE Select	NP_001157749.1:p.Gly238Ala