Canonical Allele Identifier: CA477367713

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 551179
• ClinVar RCV Id: RCV000666167
• dbSNP Id: rs1555191248
• MyVariant Identifiers: chr11:g.118898402G>T (hg19) ; chr11:g.119027692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027692G>T , CM000673.2:g.119027692G>T	GRCh38
NC_000011.9:g.118898402G>T , CM000673.1:g.118898402G>T	GRCh37
NC_000011.8:g.118403612G>T	NCBI36
NG_013331.1:g.8214C>A , LRG_187:g.8214C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.791C>A
ENST00000697845.1:n.715C>A
ENST00000697846.1:n.791C>A
ENST00000697847.1:n.791C>A
ENST00000697848.1:n.791C>A
ENST00000697849.1:n.1830C>A
ENST00000697850.1:n.791C>A
ENST00000697851.1:n.2151C>A
ENST00000638186.1:n.865C>A
ENST00000638360.1:n.697C>A
ENST00000638925.1:n.798C>A
ENST00000650539.1:n.967C>A
ENST00000330775.9:c.561C>A	ENSP00000476242.2:p.Ile187=
ENST00000357590.9:c.561C>A	ENSP00000476176.2:p.Ile187=
ENST00000524428.5:n.883C>A
ENST00000525039.5:n.985C>A
ENST00000525102.5:n.1319C>A
ENST00000525372.5:n.562C>A
ENST00000526275.5:n.1343C>A
ENST00000526626.6:n.524C>A
ENST00000527992.5:n.789C>A
ENST00000529510.5:n.399+502C>A
ENST00000530407.5:n.711C>A
ENST00000532085.1:n.3172C>A
ENST00000532888.6:n.857C>A
ENST00000538950.5:c.342C>A	ENSP00000475991.2:p.Ile114=
ENST00000545985.5:c.561C>A	ENSP00000475241.2:p.Ile187=
NM_001164277.1:c.561C>A , LRG_187t1:c.561C>A	NP_001157749.1:p.Ile187=
NM_001164278.1:c.561C>A	NP_001157750.1:p.Ile187=
NM_001164279.1:c.342C>A	NP_001157751.1:p.Ile114=
NM_001164280.1:c.561C>A	NP_001157752.1:p.Ile187=
NM_001467.5:c.561C>A	NP_001458.1:p.Ile187=
NM_001164278.2:c.561C>A	NP_001157750.1:p.Ile187=
NM_001164279.2:c.342C>A	NP_001157751.1:p.Ile114=
NM_001164280.2:c.561C>A	NP_001157752.1:p.Ile187=
NM_001467.6:c.561C>A	NP_001458.1:p.Ile187=
NM_001164277.2:c.561C>A MANE Select	NP_001157749.1:p.Ile187=