Canonical Allele Identifier: CA658823076
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 555726
ClinVar RCV Id: RCV000671596
dbSNP Id: rs1555191914

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029382C>A , CM000673.2:g.119029382C>A GRCh38
NC_000011.9:g.118900092C>A , CM000673.1:g.118900092C>A GRCh37
NC_000011.8:g.118405302C>A NCBI36
NG_013331.1:g.6525G>T , LRG_187:g.6525G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.217G>T
ENST00000697846.1:n.217G>T
ENST00000697847.1:n.217G>T
ENST00000697848.1:n.217G>T
ENST00000697849.1:n.461G>T
ENST00000697850.1:n.217G>T
ENST00000697851.1:n.461G>T
ENST00000638186.1:n.291G>T
ENST00000638360.1:n.225G>T
ENST00000638925.1:n.224G>T
ENST00000650539.1:n.393G>T
ENST00000330775.9:c.-13G>T ENSP00000476242.2:n.-13G>T
ENST00000357590.9:c.-13G>T ENSP00000476176.2:n.-13G>T
ENST00000525039.5:n.411G>T
ENST00000525102.5:n.745G>T
ENST00000525787.1:n.283G>T
ENST00000526626.6:n.183G>T
ENST00000527992.5:n.215G>T
ENST00000529510.5:n.6G>T
ENST00000530407.5:n.197+10G>T
ENST00000532085.1:n.1482G>T
ENST00000532888.6:n.183G>T
ENST00000534384.1:n.208G>T
ENST00000538950.5:c.-172+10G>T ENSP00000475991.2:n.-172+10G>T
ENST00000545985.5:c.-13G>T ENSP00000475241.2:n.-13G>T
NM_001164277.1:c.-13G>T , LRG_187t1:c.-13G>T NP_001157749.1:n.-13G>T
NM_001164278.1:c.-13G>T NP_001157750.1:n.-13G>T
NM_001164279.1:c.-172+10G>T NP_001157751.1:n.-172+10G>T
NM_001164280.1:c.-13G>T NP_001157752.1:n.-13G>T
NM_001467.5:c.-13G>T NP_001458.1:n.-13G>T
NM_001164278.2:c.-13G>T NP_001157750.1:n.-13G>T
NM_001164279.2:c.-172+10G>T NP_001157751.1:n.-172+10G>T
NM_001164280.2:c.-13G>T NP_001157752.1:n.-13G>T
NM_001467.6:c.-13G>T NP_001458.1:n.-13G>T
NM_001164277.2:c.-13G>T MANE Select NP_001157749.1:n.-13G>T