Canonical Allele Identifier: CA382908699

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 551776
• ClinVar RCV Id: RCV000666917
• dbSNP Id: rs193302881
• MyVariant Identifiers: chr11:g.118900021C>G (hg19) ; chr11:g.119029311C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029311C>G , CM000673.2:g.119029311C>G	GRCh38
NC_000011.9:g.118900021C>G , CM000673.1:g.118900021C>G	GRCh37
NC_000011.8:g.118405231C>G	NCBI36
NG_013331.1:g.6596G>C , LRG_187:g.6596G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.288G>C
ENST00000697846.1:n.288G>C
ENST00000697847.1:n.288G>C
ENST00000697848.1:n.288G>C
ENST00000697849.1:n.532G>C
ENST00000697850.1:n.288G>C
ENST00000697851.1:n.532G>C
ENST00000638186.1:n.362G>C
ENST00000638360.1:n.296G>C
ENST00000638925.1:n.295G>C
ENST00000650539.1:n.464G>C
ENST00000330775.9:c.59G>C	ENSP00000476242.2:p.Gly20Ala
ENST00000357590.9:c.59G>C	ENSP00000476176.2:p.Gly20Ala
ENST00000524428.5:n.59G>C
ENST00000525039.5:n.482G>C
ENST00000525102.5:n.816G>C
ENST00000525372.5:n.59G>C
ENST00000525787.1:n.354G>C
ENST00000526626.6:n.254G>C
ENST00000527992.5:n.286G>C
ENST00000529510.5:n.77G>C
ENST00000530407.5:n.197+81G>C
ENST00000532085.1:n.1553G>C
ENST00000532888.6:n.254G>C
ENST00000534384.1:n.279G>C
ENST00000538950.5:c.-172+81G>C	ENSP00000475991.2:n.-172+81G>C
ENST00000545985.5:c.59G>C	ENSP00000475241.2:p.Gly20Ala
NM_001164277.1:c.59G>C , LRG_187t1:c.59G>C	NP_001157749.1:p.Gly20Ala
NM_001164278.1:c.59G>C	NP_001157750.1:p.Gly20Ala
NM_001164279.1:c.-172+81G>C	NP_001157751.1:n.-172+81G>C
NM_001164280.1:c.59G>C	NP_001157752.1:p.Gly20Ala
NM_001467.5:c.59G>C	NP_001458.1:p.Gly20Ala
NM_001164278.2:c.59G>C	NP_001157750.1:p.Gly20Ala
NM_001164279.2:c.-172+81G>C	NP_001157751.1:n.-172+81G>C
NM_001164280.2:c.59G>C	NP_001157752.1:p.Gly20Ala
NM_001467.6:c.59G>C	NP_001458.1:p.Gly20Ala
NM_001164277.2:c.59G>C MANE Select	NP_001157749.1:p.Gly20Ala