Canonical Allele Identifier: CA2695199032

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2678955
• ClinVar RCV Id: RCV003472931

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027677dup , CM000673.2:g.119027677dup	GRCh38
NC_000011.9:g.118898387dup , CM000673.1:g.118898387dup	GRCh37
NC_000011.8:g.118403597dup	NCBI36
NG_013331.1:g.8229dup , LRG_187:g.8229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.806dup
ENST00000697845.1:n.730dup
ENST00000697846.1:n.806dup
ENST00000697847.1:n.806dup
ENST00000697848.1:n.806dup
ENST00000697849.1:n.1845dup
ENST00000697850.1:n.806dup
ENST00000697851.1:n.2166dup
ENST00000638186.1:n.880dup
ENST00000638360.1:n.712dup
ENST00000638925.1:n.813dup
ENST00000650539.1:n.982dup
ENST00000330775.9:c.576dup	ENSP00000476242.2:p.Asp193Ter
ENST00000357590.9:c.576dup	ENSP00000476176.2:p.Asp193Ter
ENST00000524428.5:n.898dup
ENST00000525039.5:n.1000dup
ENST00000525102.5:n.1334dup
ENST00000525372.5:n.577dup
ENST00000526275.5:n.1358dup
ENST00000526626.6:n.539dup
ENST00000527992.5:n.804dup
ENST00000529510.5:n.399+517dup
ENST00000530407.5:n.726dup
ENST00000532085.1:n.3187dup
ENST00000532888.6:n.872dup
ENST00000538950.5:c.357dup	ENSP00000475991.2:p.Asp120Ter
ENST00000545985.5:c.576dup	ENSP00000475241.2:p.Asp193Ter
NM_001164277.1:c.576dup , LRG_187t1:c.576dup	NP_001157749.1:p.Asp193Ter
NM_001164278.1:c.576dup	NP_001157750.1:p.Asp193Ter
NM_001164279.1:c.357dup	NP_001157751.1:p.Asp120Ter
NM_001164280.1:c.576dup	NP_001157752.1:p.Asp193Ter
NM_001467.5:c.576dup	NP_001458.1:p.Asp193Ter
NM_001164278.2:c.576dup	NP_001157750.1:p.Asp193Ter
NM_001164279.2:c.357dup	NP_001157751.1:p.Asp120Ter
NM_001164280.2:c.576dup	NP_001157752.1:p.Asp193Ter
NM_001467.6:c.576dup	NP_001458.1:p.Asp193Ter
NM_001164277.2:c.576dup MANE Select	NP_001157749.1:p.Asp193Ter