Canonical Allele Identifier: CA382901071

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1455228139
• gnomAD v2: 11-118897692-C-T
• gnomAD v4: 11-119026982-C-T
• MyVariant Identifiers: chr11:g.118897692C>T (hg19) ; chr11:g.119026982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026982C>T , CM000673.2:g.119026982C>T	GRCh38
NC_000011.9:g.118897692C>T , CM000673.1:g.118897692C>T	GRCh37
NC_000011.8:g.118402902C>T	NCBI36
NG_013331.1:g.8924G>A , LRG_187:g.8924G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.969G>A
ENST00000697845.1:n.893G>A
ENST00000697846.1:n.969G>A
ENST00000697847.1:n.969G>A
ENST00000697848.1:n.969G>A
ENST00000697849.1:n.2008G>A
ENST00000697850.1:n.969G>A
ENST00000697851.1:n.2329G>A
ENST00000638186.1:n.1043G>A
ENST00000638360.1:n.875G>A
ENST00000638925.1:n.976G>A
ENST00000650539.1:n.1145G>A
ENST00000330775.9:c.739G>A	ENSP00000476242.2:p.Gly247Ser
ENST00000357590.9:c.739G>A	ENSP00000476176.2:p.Gly247Ser
ENST00000524428.5:n.1061G>A
ENST00000525039.5:n.1163G>A
ENST00000525102.5:n.1497G>A
ENST00000525372.5:n.740G>A
ENST00000526275.5:n.1521G>A
ENST00000526626.6:n.702G>A
ENST00000527992.5:n.967G>A
ENST00000529510.5:n.513G>A
ENST00000530407.5:n.889G>A
ENST00000532085.1:n.3350G>A
ENST00000532888.6:n.1035G>A
ENST00000538950.5:c.520G>A	ENSP00000475991.2:p.Gly174Ser
ENST00000545985.5:c.739G>A	ENSP00000475241.2:p.Gly247Ser
NM_001164277.1:c.739G>A , LRG_187t1:c.739G>A	NP_001157749.1:p.Gly247Ser
NM_001164278.1:c.739G>A	NP_001157750.1:p.Gly247Ser
NM_001164279.1:c.520G>A	NP_001157751.1:p.Gly174Ser
NM_001164280.1:c.739G>A	NP_001157752.1:p.Gly247Ser
NM_001467.5:c.739G>A	NP_001458.1:p.Gly247Ser
NM_001164278.2:c.739G>A	NP_001157750.1:p.Gly247Ser
NM_001164279.2:c.520G>A	NP_001157751.1:p.Gly174Ser
NM_001164280.2:c.739G>A	NP_001157752.1:p.Gly247Ser
NM_001467.6:c.739G>A	NP_001458.1:p.Gly247Ser
NM_001164277.2:c.739G>A MANE Select	NP_001157749.1:p.Gly247Ser