Canonical Allele Identifier: CA477125027

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 556765
• ClinVar RCV Id: RCV000672817
• dbSNP Id: rs1555190749
• MyVariant Identifiers: chr11:g.118896754G>A (hg19) ; chr11:g.119026044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026044G>A , CM000673.2:g.119026044G>A	GRCh38
NC_000011.9:g.118896754G>A , CM000673.1:g.118896754G>A	GRCh37
NC_000011.8:g.118401964G>A	NCBI36
NG_013331.1:g.9862C>T , LRG_187:g.9862C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1051C>T
ENST00000697845.1:n.1831C>T
ENST00000697846.1:n.1051C>T
ENST00000697847.1:n.1202-287C>T
ENST00000697848.1:n.1137C>T
ENST00000697849.1:n.2946C>T
ENST00000697850.1:n.1137C>T
ENST00000697851.1:n.2745C>T
ENST00000638186.1:n.1211C>T
ENST00000638360.1:n.1043C>T
ENST00000638925.1:n.1176C>T
ENST00000650539.1:n.1313C>T
ENST00000330775.9:c.907C>T	ENSP00000476242.2:p.Leu303=
ENST00000357590.9:c.907C>T	ENSP00000476176.2:p.Leu303=
ENST00000524428.5:n.1143C>T
ENST00000525039.5:n.1331C>T
ENST00000525102.5:n.1665C>T
ENST00000525372.5:n.1005C>T
ENST00000526275.5:n.1689C>T
ENST00000527992.5:n.1135C>T
ENST00000529510.5:n.595C>T
ENST00000530407.5:n.1057C>T
ENST00000532085.1:n.4288C>T
ENST00000538950.5:c.688C>T	ENSP00000475991.2:p.Leu230=
ENST00000545985.5:c.907C>T	ENSP00000475241.2:p.Leu303=
NM_001164277.1:c.907C>T , LRG_187t1:c.907C>T	NP_001157749.1:p.Leu303=
NM_001164278.1:c.907C>T	NP_001157750.1:p.Leu303=
NM_001164279.1:c.688C>T	NP_001157751.1:p.Leu230=
NM_001164280.1:c.907C>T	NP_001157752.1:p.Leu303=
NM_001467.5:c.907C>T	NP_001458.1:p.Leu303=
NM_001164278.2:c.907C>T	NP_001157750.1:p.Leu303=
NM_001164279.2:c.688C>T	NP_001157751.1:p.Leu230=
NM_001164280.2:c.907C>T	NP_001157752.1:p.Leu303=
NM_001467.6:c.907C>T	NP_001458.1:p.Leu303=
NM_001164277.2:c.907C>T MANE Select	NP_001157749.1:p.Leu303=