Canonical Allele Identifier: CA382908723

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1490187
• ClinVar RCV Id: RCV001983623
• dbSNP Id: rs2134644210
• MyVariant Identifiers: chr11:g.118900022C>A (hg19) ; chr11:g.119029312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029312C>A , CM000673.2:g.119029312C>A	GRCh38
NC_000011.9:g.118900022C>A , CM000673.1:g.118900022C>A	GRCh37
NC_000011.8:g.118405232C>A	NCBI36
NG_013331.1:g.6595G>T , LRG_187:g.6595G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.287G>T
ENST00000697846.1:n.287G>T
ENST00000697847.1:n.287G>T
ENST00000697848.1:n.287G>T
ENST00000697849.1:n.531G>T
ENST00000697850.1:n.287G>T
ENST00000697851.1:n.531G>T
ENST00000638186.1:n.361G>T
ENST00000638360.1:n.295G>T
ENST00000638925.1:n.294G>T
ENST00000650539.1:n.463G>T
ENST00000330775.9:c.58G>T	ENSP00000476242.2:p.Gly20Cys
ENST00000357590.9:c.58G>T	ENSP00000476176.2:p.Gly20Cys
ENST00000524428.5:n.58G>T
ENST00000525039.5:n.481G>T
ENST00000525102.5:n.815G>T
ENST00000525372.5:n.58G>T
ENST00000525787.1:n.353G>T
ENST00000526626.6:n.253G>T
ENST00000527992.5:n.285G>T
ENST00000529510.5:n.76G>T
ENST00000530407.5:n.197+80G>T
ENST00000532085.1:n.1552G>T
ENST00000532888.6:n.253G>T
ENST00000534384.1:n.278G>T
ENST00000538950.5:c.-172+80G>T	ENSP00000475991.2:n.-172+80G>T
ENST00000545985.5:c.58G>T	ENSP00000475241.2:p.Gly20Cys
NM_001164277.1:c.58G>T , LRG_187t1:c.58G>T	NP_001157749.1:p.Gly20Cys
NM_001164278.1:c.58G>T	NP_001157750.1:p.Gly20Cys
NM_001164279.1:c.-172+80G>T	NP_001157751.1:n.-172+80G>T
NM_001164280.1:c.58G>T	NP_001157752.1:p.Gly20Cys
NM_001467.5:c.58G>T	NP_001458.1:p.Gly20Cys
NM_001164278.2:c.58G>T	NP_001157750.1:p.Gly20Cys
NM_001164279.2:c.-172+80G>T	NP_001157751.1:n.-172+80G>T
NM_001164280.2:c.58G>T	NP_001157752.1:p.Gly20Cys
NM_001467.6:c.58G>T	NP_001458.1:p.Gly20Cys
NM_001164277.2:c.58G>T MANE Select	NP_001157749.1:p.Gly20Cys