Canonical Allele Identifier: CA382901213
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 553440
ClinVar RCV Id: RCV000668892
dbSNP Id: rs1555191079

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119027000T>C , CM000673.2:g.119027000T>C GRCh38
NC_000011.9:g.118897710T>C , CM000673.1:g.118897710T>C GRCh37
NC_000011.8:g.118402920T>C NCBI36
NG_013331.1:g.8906A>G , LRG_187:g.8906A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.951A>G
ENST00000697845.1:n.875A>G
ENST00000697846.1:n.951A>G
ENST00000697847.1:n.951A>G
ENST00000697848.1:n.951A>G
ENST00000697849.1:n.1990A>G
ENST00000697850.1:n.951A>G
ENST00000697851.1:n.2311A>G
ENST00000638186.1:n.1025A>G
ENST00000638360.1:n.857A>G
ENST00000638925.1:n.958A>G
ENST00000650539.1:n.1127A>G
ENST00000330775.9:c.721A>G ENSP00000476242.2:p.Thr241Ala
ENST00000357590.9:c.721A>G ENSP00000476176.2:p.Thr241Ala
ENST00000524428.5:n.1043A>G
ENST00000525039.5:n.1145A>G
ENST00000525102.5:n.1479A>G
ENST00000525372.5:n.722A>G
ENST00000526275.5:n.1503A>G
ENST00000526626.6:n.684A>G
ENST00000527992.5:n.949A>G
ENST00000529510.5:n.495A>G
ENST00000530407.5:n.871A>G
ENST00000532085.1:n.3332A>G
ENST00000532888.6:n.1017A>G
ENST00000538950.5:c.502A>G ENSP00000475991.2:p.Thr168Ala
ENST00000545985.5:c.721A>G ENSP00000475241.2:p.Thr241Ala
NM_001164277.1:c.721A>G , LRG_187t1:c.721A>G NP_001157749.1:p.Thr241Ala
NM_001164278.1:c.721A>G NP_001157750.1:p.Thr241Ala
NM_001164279.1:c.502A>G NP_001157751.1:p.Thr168Ala
NM_001164280.1:c.721A>G NP_001157752.1:p.Thr241Ala
NM_001467.5:c.721A>G NP_001458.1:p.Thr241Ala
NM_001164278.2:c.721A>G NP_001157750.1:p.Thr241Ala
NM_001164279.2:c.502A>G NP_001157751.1:p.Thr168Ala
NM_001164280.2:c.721A>G NP_001157752.1:p.Thr241Ala
NM_001467.6:c.721A>G NP_001458.1:p.Thr241Ala
NM_001164277.2:c.721A>G MANE Select NP_001157749.1:p.Thr241Ala