Canonical Allele Identifier: CA6311926

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2690010
• ClinVar RCV Id: RCV003491500
• dbSNP Id: rs528095472
• ExAC: 11:118900037 A / G
• gnomAD v2: 11-118900037-A-G
• gnomAD v3: 11-119029327-A-G
• gnomAD v4: 11-119029327-A-G
• MyVariant Identifiers: chr11:g.118900037A>G (hg19) ; chr11:g.119029327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029327A>G , CM000673.2:g.119029327A>G	GRCh38
NC_000011.9:g.118900037A>G , CM000673.1:g.118900037A>G	GRCh37
NC_000011.8:g.118405247A>G	NCBI36
NG_013331.1:g.6580T>C , LRG_187:g.6580T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.272T>C
ENST00000697846.1:n.272T>C
ENST00000697847.1:n.272T>C
ENST00000697848.1:n.272T>C
ENST00000697849.1:n.516T>C
ENST00000697850.1:n.272T>C
ENST00000697851.1:n.516T>C
ENST00000638186.1:n.346T>C
ENST00000638360.1:n.280T>C
ENST00000638925.1:n.279T>C
ENST00000650539.1:n.448T>C
ENST00000330775.9:c.43T>C	ENSP00000476242.2:p.Ser15Pro
ENST00000357590.9:c.43T>C	ENSP00000476176.2:p.Ser15Pro
ENST00000524428.5:n.43T>C
ENST00000525039.5:n.466T>C
ENST00000525102.5:n.800T>C
ENST00000525372.5:n.43T>C
ENST00000525787.1:n.338T>C
ENST00000526626.6:n.238T>C
ENST00000527992.5:n.270T>C
ENST00000529510.5:n.61T>C
ENST00000530407.5:n.197+65T>C
ENST00000532085.1:n.1537T>C
ENST00000532888.6:n.238T>C
ENST00000534384.1:n.263T>C
ENST00000538950.5:c.-172+65T>C	ENSP00000475991.2:n.-172+65T>C
ENST00000545985.5:c.43T>C	ENSP00000475241.2:p.Ser15Pro
NM_001164277.1:c.43T>C , LRG_187t1:c.43T>C	NP_001157749.1:p.Ser15Pro
NM_001164278.1:c.43T>C	NP_001157750.1:p.Ser15Pro
NM_001164279.1:c.-172+65T>C	NP_001157751.1:n.-172+65T>C
NM_001164280.1:c.43T>C	NP_001157752.1:p.Ser15Pro
NM_001467.5:c.43T>C	NP_001458.1:p.Ser15Pro
NM_001164278.2:c.43T>C	NP_001157750.1:p.Ser15Pro
NM_001164279.2:c.-172+65T>C	NP_001157751.1:n.-172+65T>C
NM_001164280.2:c.43T>C	NP_001157752.1:p.Ser15Pro
NM_001467.6:c.43T>C	NP_001458.1:p.Ser15Pro
NM_001164277.2:c.43T>C MANE Select	NP_001157749.1:p.Ser15Pro