Canonical Allele Identifier: CA477124935

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1273141622
• gnomAD v2: 11-118896462-A-G
• MyVariant Identifiers: chr11:g.118896462A>G (hg19) ; chr11:g.119025752A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025752A>G , CM000673.2:g.119025752A>G	GRCh38
NC_000011.9:g.118896462A>G , CM000673.1:g.118896462A>G	GRCh37
NC_000011.8:g.118401672A>G	NCBI36
NG_013331.1:g.10154T>C , LRG_187:g.10154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1134T>C
ENST00000697845.1:n.2123T>C
ENST00000697846.1:n.1134T>C
ENST00000697847.1:n.1207T>C
ENST00000697848.1:n.1220T>C
ENST00000697849.1:n.3238T>C
ENST00000697850.1:n.1429T>C
ENST00000697851.1:n.2822+215T>C
ENST00000638186.1:n.1288+215T>C
ENST00000638360.1:n.1120+215T>C
ENST00000638925.1:n.1253+215T>C
ENST00000650539.1:n.1396T>C
ENST00000330775.9:c.984+215T>C	ENSP00000476242.2:n.984+215T>C
ENST00000357590.9:c.990T>C	ENSP00000476176.2:p.Val330=
ENST00000524428.5:n.1220+215T>C
ENST00000525039.5:n.1414T>C
ENST00000525102.5:n.1742+215T>C
ENST00000525372.5:n.1082+215T>C
ENST00000526275.5:n.1766+215T>C
ENST00000527992.5:n.1212+215T>C
ENST00000529510.5:n.672+215T>C
ENST00000530407.5:n.1134+215T>C
ENST00000532085.1:n.4580T>C
ENST00000538950.5:c.765+215T>C	ENSP00000475991.2:n.765+215T>C
ENST00000545985.5:c.984+215T>C	ENSP00000475241.2:n.984+215T>C
NM_001164277.1:c.984+215T>C , LRG_187t1:c.984+215T>C	NP_001157749.1:n.984+215T>C
NM_001164278.1:c.990T>C	NP_001157750.1:p.Val330=
NM_001164279.1:c.765+215T>C	NP_001157751.1:n.765+215T>C
NM_001164280.1:c.984+215T>C	NP_001157752.1:n.984+215T>C
NM_001467.5:c.984+215T>C	NP_001458.1:n.984+215T>C
NM_001164278.2:c.990T>C	NP_001157750.1:p.Val330=
NM_001164279.2:c.765+215T>C	NP_001157751.1:n.765+215T>C
NM_001164280.2:c.984+215T>C	NP_001157752.1:n.984+215T>C
NM_001467.6:c.984+215T>C	NP_001458.1:n.984+215T>C
NM_001164277.2:c.984+215T>C MANE Select	NP_001157749.1:n.984+215T>C