Canonical Allele Identifier: CA477125337

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1181428374
• gnomAD v4: 11-119026651-A-G
• MyVariant Identifiers: chr11:g.118897361A>G (hg19) ; chr11:g.119026651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026651A>G , CM000673.2:g.119026651A>G	GRCh38
NC_000011.9:g.118897361A>G , CM000673.1:g.118897361A>G	GRCh37
NC_000011.8:g.118402571A>G	NCBI36
NG_013331.1:g.9255T>C , LRG_187:g.9255T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1014+286T>C
ENST00000697845.1:n.1224T>C
ENST00000697846.1:n.1014+286T>C
ENST00000697847.1:n.1052T>C
ENST00000697848.1:n.1052T>C
ENST00000697849.1:n.2339T>C
ENST00000697850.1:n.1052T>C
ENST00000697851.1:n.2660T>C
ENST00000638186.1:n.1126T>C
ENST00000638360.1:n.958T>C
ENST00000638925.1:n.1059T>C
ENST00000650539.1:n.1228T>C
ENST00000330775.9:c.822T>C	ENSP00000476242.2:p.Leu274=
ENST00000357590.9:c.822T>C	ENSP00000476176.2:p.Leu274=
ENST00000524428.5:n.1106+286T>C
ENST00000525039.5:n.1246T>C
ENST00000525102.5:n.1580T>C
ENST00000525372.5:n.823T>C
ENST00000526275.5:n.1604T>C
ENST00000527992.5:n.1050T>C
ENST00000529510.5:n.558+286T>C
ENST00000530407.5:n.972T>C
ENST00000532085.1:n.3681T>C
ENST00000538950.5:c.603T>C	ENSP00000475991.2:p.Leu201=
ENST00000545985.5:c.822T>C	ENSP00000475241.2:p.Leu274=
NM_001164277.1:c.822T>C , LRG_187t1:c.822T>C	NP_001157749.1:p.Leu274=
NM_001164278.1:c.822T>C	NP_001157750.1:p.Leu274=
NM_001164279.1:c.603T>C	NP_001157751.1:p.Leu201=
NM_001164280.1:c.822T>C	NP_001157752.1:p.Leu274=
NM_001467.5:c.822T>C	NP_001458.1:p.Leu274=
NM_001164278.2:c.822T>C	NP_001157750.1:p.Leu274=
NM_001164279.2:c.603T>C	NP_001157751.1:p.Leu201=
NM_001164280.2:c.822T>C	NP_001157752.1:p.Leu274=
NM_001467.6:c.822T>C	NP_001458.1:p.Leu274=
NM_001164277.2:c.822T>C MANE Select	NP_001157749.1:p.Leu274=