Canonical Allele Identifier: CA477129429

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 554766
• ClinVar RCV Id: RCV000670453
• dbSNP Id: rs1310970870
• gnomAD v2: 11-118899936-A-G
• gnomAD v3: 11-119029226-A-G
• gnomAD v4: 11-119029226-A-G
• MyVariant Identifiers: chr11:g.118899936A>G (hg19) ; chr11:g.119029226A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029226A>G , CM000673.2:g.119029226A>G	GRCh38
NC_000011.9:g.118899936A>G , CM000673.1:g.118899936A>G	GRCh37
NC_000011.8:g.118405146A>G	NCBI36
NG_013331.1:g.6681T>C , LRG_187:g.6681T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.373T>C
ENST00000697846.1:n.373T>C
ENST00000697847.1:n.373T>C
ENST00000697848.1:n.373T>C
ENST00000697849.1:n.617T>C
ENST00000697850.1:n.373T>C
ENST00000697851.1:n.617T>C
ENST00000638186.1:n.447T>C
ENST00000638360.1:n.381T>C
ENST00000638925.1:n.380T>C
ENST00000650539.1:n.549T>C
ENST00000330775.9:c.144T>C	ENSP00000476242.2:p.Asp48=
ENST00000357590.9:c.144T>C	ENSP00000476176.2:p.Asp48=
ENST00000524428.5:n.144T>C
ENST00000525039.5:n.567T>C
ENST00000525102.5:n.901T>C
ENST00000525372.5:n.144T>C
ENST00000525787.1:n.439T>C
ENST00000526626.6:n.339T>C
ENST00000527992.5:n.371T>C
ENST00000529510.5:n.162T>C
ENST00000530407.5:n.197+166T>C
ENST00000532085.1:n.1638T>C
ENST00000532888.6:n.339T>C
ENST00000534384.1:n.364T>C
ENST00000538950.5:c.-172+166T>C	ENSP00000475991.2:n.-172+166T>C
ENST00000545985.5:c.144T>C	ENSP00000475241.2:p.Asp48=
NM_001164277.1:c.144T>C , LRG_187t1:c.144T>C	NP_001157749.1:p.Asp48=
NM_001164278.1:c.144T>C	NP_001157750.1:p.Asp48=
NM_001164279.1:c.-172+166T>C	NP_001157751.1:n.-172+166T>C
NM_001164280.1:c.144T>C	NP_001157752.1:p.Asp48=
NM_001467.5:c.144T>C	NP_001458.1:p.Asp48=
NM_001164278.2:c.144T>C	NP_001157750.1:p.Asp48=
NM_001164279.2:c.-172+166T>C	NP_001157751.1:n.-172+166T>C
NM_001164280.2:c.144T>C	NP_001157752.1:p.Asp48=
NM_001467.6:c.144T>C	NP_001458.1:p.Asp48=
NM_001164277.2:c.144T>C MANE Select	NP_001157749.1:p.Asp48=