Canonical Allele Identifier: CA382897895
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026039C>G , CM000673.2:g.119026039C>G GRCh38
NC_000011.9:g.118896749C>G , CM000673.1:g.118896749C>G GRCh37
NC_000011.8:g.118401959C>G NCBI36
NG_013331.1:g.9867G>C , LRG_187:g.9867G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.1056G>C
ENST00000697845.1:n.1836G>C
ENST00000697846.1:n.1056G>C
ENST00000697847.1:n.1202-282G>C
ENST00000697848.1:n.1142G>C
ENST00000697849.1:n.2951G>C
ENST00000697850.1:n.1142G>C
ENST00000697851.1:n.2750G>C
ENST00000638186.1:n.1216G>C
ENST00000638360.1:n.1048G>C
ENST00000638925.1:n.1181G>C
ENST00000650539.1:n.1318G>C
ENST00000330775.9:c.912G>C ENSP00000476242.2:p.Leu304Phe
ENST00000357590.9:c.912G>C ENSP00000476176.2:p.Leu304Phe
ENST00000524428.5:n.1148G>C
ENST00000525039.5:n.1336G>C
ENST00000525102.5:n.1670G>C
ENST00000525372.5:n.1010G>C
ENST00000526275.5:n.1694G>C
ENST00000527992.5:n.1140G>C
ENST00000529510.5:n.600G>C
ENST00000530407.5:n.1062G>C
ENST00000532085.1:n.4293G>C
ENST00000538950.5:c.693G>C ENSP00000475991.2:p.Leu231Phe
ENST00000545985.5:c.912G>C ENSP00000475241.2:p.Leu304Phe
NM_001164277.1:c.912G>C , LRG_187t1:c.912G>C NP_001157749.1:p.Leu304Phe
NM_001164278.1:c.912G>C NP_001157750.1:p.Leu304Phe
NM_001164279.1:c.693G>C NP_001157751.1:p.Leu231Phe
NM_001164280.1:c.912G>C NP_001157752.1:p.Leu304Phe
NM_001467.5:c.912G>C NP_001458.1:p.Leu304Phe
NM_001164278.2:c.912G>C NP_001157750.1:p.Leu304Phe
NM_001164279.2:c.693G>C NP_001157751.1:p.Leu231Phe
NM_001164280.2:c.912G>C NP_001157752.1:p.Leu304Phe
NM_001467.6:c.912G>C NP_001458.1:p.Leu304Phe
NM_001164277.2:c.912G>C MANE Select NP_001157749.1:p.Leu304Phe