Canonical Allele Identifier: CA382905926

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 555269
• ClinVar RCV Id: RCV000671059
• dbSNP Id: rs1555191603
• MyVariant Identifiers: chr11:g.118899061C>G (hg19) ; chr11:g.119028351C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028351C>G , CM000673.2:g.119028351C>G	GRCh38
NC_000011.9:g.118899061C>G , CM000673.1:g.118899061C>G	GRCh37
NC_000011.8:g.118404271C>G	NCBI36
NG_013331.1:g.7556G>C , LRG_187:g.7556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.453G>C
ENST00000697845.1:n.377G>C
ENST00000697846.1:n.453G>C
ENST00000697847.1:n.453G>C
ENST00000697848.1:n.453G>C
ENST00000697849.1:n.1492G>C
ENST00000697850.1:n.453G>C
ENST00000697851.1:n.1492G>C
ENST00000638186.1:n.527G>C
ENST00000638360.1:n.461G>C
ENST00000638925.1:n.460G>C
ENST00000650539.1:n.629G>C
ENST00000330775.9:c.224G>C	ENSP00000476242.2:p.Ser75Thr
ENST00000357590.9:c.224G>C	ENSP00000476176.2:p.Ser75Thr
ENST00000524428.5:n.224G>C
ENST00000525039.5:n.647G>C
ENST00000525102.5:n.981G>C
ENST00000525372.5:n.224G>C
ENST00000525787.1:n.519G>C
ENST00000526275.5:n.684G>C
ENST00000526626.6:n.344-479G>C
ENST00000527992.5:n.451G>C
ENST00000529510.5:n.242G>C
ENST00000530407.5:n.373G>C
ENST00000532085.1:n.2513G>C
ENST00000532888.6:n.519G>C
ENST00000534384.1:n.444G>C
ENST00000538950.5:c.5G>C	ENSP00000475991.2:p.Ser2Thr
ENST00000545985.5:c.224G>C	ENSP00000475241.2:p.Ser75Thr
NM_001164277.1:c.224G>C , LRG_187t1:c.224G>C	NP_001157749.1:p.Ser75Thr
NM_001164278.1:c.224G>C	NP_001157750.1:p.Ser75Thr
NM_001164279.1:c.5G>C	NP_001157751.1:p.Ser2Thr
NM_001164280.1:c.224G>C	NP_001157752.1:p.Ser75Thr
NM_001467.5:c.224G>C	NP_001458.1:p.Ser75Thr
NM_001164278.2:c.224G>C	NP_001157750.1:p.Ser75Thr
NM_001164279.2:c.5G>C	NP_001157751.1:p.Ser2Thr
NM_001164280.2:c.224G>C	NP_001157752.1:p.Ser75Thr
NM_001467.6:c.224G>C	NP_001458.1:p.Ser75Thr
NM_001164277.2:c.224G>C MANE Select	NP_001157749.1:p.Ser75Thr