Canonical Allele Identifier: CA219349
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 68290
dbSNP Id: rs193302889

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029289A>T , CM000673.2:g.119029289A>T GRCh38
NC_000011.9:g.118899999A>T , CM000673.1:g.118899999A>T GRCh37
NC_000011.8:g.118405209A>T NCBI36
NG_013331.1:g.6618T>A , LRG_187:g.6618T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000638186.1:n.384T>A
ENST00000638360.1:n.318T>A
ENST00000638925.1:n.317T>A
ENST00000650539.1:n.486T>A
ENST00000330775.9:c.81T>A ENSP00000476242.2:p.Asn27Lys
ENST00000357590.9:c.81T>A ENSP00000476176.2:p.Asn27Lys
ENST00000524428.5:n.81T>A
ENST00000525039.5:n.504T>A
ENST00000525102.5:n.838T>A
ENST00000525372.5:n.81T>A
ENST00000525787.1:n.376T>A
ENST00000526626.6:n.276T>A
ENST00000527992.5:n.308T>A
ENST00000529510.5:n.99T>A
ENST00000530407.5:n.197+103T>A
ENST00000532085.1:n.1575T>A
ENST00000532888.6:n.276T>A
ENST00000534384.1:n.301T>A
ENST00000538950.5:c.-172+103T>A ENSP00000475991.2:p.=
ENST00000545985.5:c.81T>A ENSP00000475241.2:p.Asn27Lys
NM_001164277.1:c.81T>A , LRG_187t1:c.81T>A NP_001157749.1:p.Asn27Lys
NM_001164278.1:c.81T>A NP_001157750.1:p.Asn27Lys
NM_001164279.1:c.-172+103T>A NP_001157751.1:p.=
NM_001164280.1:c.81T>A NP_001157752.1:p.Asn27Lys
NM_001467.5:c.81T>A NP_001458.1:p.Asn27Lys
NM_001164278.2:c.81T>A NP_001157750.1:p.Asn27Lys
NM_001164279.2:c.-172+103T>A NP_001157751.1:p.=
NM_001164280.2:c.81T>A NP_001157752.1:p.Asn27Lys
NM_001467.6:c.81T>A NP_001458.1:p.Asn27Lys
NM_001164277.2:c.81T>A NP_001157749.1:p.Asn27Lys