Canonical Allele Identifier: CA382897599
Gene: SLC37A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026014C>A , CM000673.2:g.119026014C>A GRCh38
NC_000011.9:g.118896724C>A , CM000673.1:g.118896724C>A GRCh37
NC_000011.8:g.118401934C>A NCBI36
NG_013331.1:g.9892G>T , LRG_187:g.9892G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1081G>T
ENST00000697845.1:n.1861G>T
ENST00000697846.1:n.1081G>T
ENST00000697847.1:n.1202-257G>T
ENST00000697848.1:n.1167G>T
ENST00000697849.1:n.2976G>T
ENST00000697850.1:n.1167G>T
ENST00000697851.1:n.2775G>T
ENST00000638186.1:n.1241G>T
ENST00000638360.1:n.1073G>T
ENST00000638925.1:n.1206G>T
ENST00000650539.1:n.1343G>T
ENST00000330775.9:c.937G>T ENSP00000476242.2:p.Val313Leu
ENST00000357590.9:c.937G>T ENSP00000476176.2:p.Val313Leu
ENST00000524428.5:n.1173G>T
ENST00000525039.5:n.1361G>T
ENST00000525102.5:n.1695G>T
ENST00000525372.5:n.1035G>T
ENST00000526275.5:n.1719G>T
ENST00000527992.5:n.1165G>T
ENST00000529510.5:n.625G>T
ENST00000530407.5:n.1087G>T
ENST00000532085.1:n.4318G>T
ENST00000538950.5:c.718G>T ENSP00000475991.2:p.Val240Leu
ENST00000545985.5:c.937G>T ENSP00000475241.2:p.Val313Leu
NM_001164277.1:c.937G>T , LRG_187t1:c.937G>T NP_001157749.1:p.Val313Leu
NM_001164278.1:c.937G>T NP_001157750.1:p.Val313Leu
NM_001164279.1:c.718G>T NP_001157751.1:p.Val240Leu
NM_001164280.1:c.937G>T NP_001157752.1:p.Val313Leu
NM_001467.5:c.937G>T NP_001458.1:p.Val313Leu
NM_001164278.2:c.937G>T NP_001157750.1:p.Val313Leu
NM_001164279.2:c.718G>T NP_001157751.1:p.Val240Leu
NM_001164280.2:c.937G>T NP_001157752.1:p.Val313Leu
NM_001467.6:c.937G>T NP_001458.1:p.Val313Leu
NM_001164277.2:c.937G>T MANE Select NP_001157749.1:p.Val313Leu