Canonical Allele Identifier: CA229601204

Gene: SLC37A4

Linked Data

• dbSNP Id: rs914854883
• gnomAD v4: 11-119029351-C-T
• MyVariant Identifiers: chr11:g.118900061C>T (hg19) ; chr11:g.119029351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029351C>T , CM000673.2:g.119029351C>T	GRCh38
NC_000011.9:g.118900061C>T , CM000673.1:g.118900061C>T	GRCh37
NC_000011.8:g.118405271C>T	NCBI36
NG_013331.1:g.6556G>A , LRG_187:g.6556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.248G>A
ENST00000697846.1:n.248G>A
ENST00000697847.1:n.248G>A
ENST00000697848.1:n.248G>A
ENST00000697849.1:n.492G>A
ENST00000697850.1:n.248G>A
ENST00000697851.1:n.492G>A
ENST00000638186.1:n.322G>A
ENST00000638360.1:n.256G>A
ENST00000638925.1:n.255G>A
ENST00000650539.1:n.424G>A
ENST00000330775.9:c.19G>A	ENSP00000476242.2:p.Gly7Ser
ENST00000357590.9:c.19G>A	ENSP00000476176.2:p.Gly7Ser
ENST00000524428.5:n.19G>A
ENST00000525039.5:n.442G>A
ENST00000525102.5:n.776G>A
ENST00000525372.5:n.19G>A
ENST00000525787.1:n.314G>A
ENST00000526626.6:n.214G>A
ENST00000527992.5:n.246G>A
ENST00000529510.5:n.37G>A
ENST00000530407.5:n.197+41G>A
ENST00000532085.1:n.1513G>A
ENST00000532888.6:n.214G>A
ENST00000534384.1:n.239G>A
ENST00000538950.5:c.-172+41G>A	ENSP00000475991.2:n.-172+41G>A
ENST00000545985.5:c.19G>A	ENSP00000475241.2:p.Gly7Ser
NM_001164277.1:c.19G>A , LRG_187t1:c.19G>A	NP_001157749.1:p.Gly7Ser
NM_001164278.1:c.19G>A	NP_001157750.1:p.Gly7Ser
NM_001164279.1:c.-172+41G>A	NP_001157751.1:n.-172+41G>A
NM_001164280.1:c.19G>A	NP_001157752.1:p.Gly7Ser
NM_001467.5:c.19G>A	NP_001458.1:p.Gly7Ser
NM_001164278.2:c.19G>A	NP_001157750.1:p.Gly7Ser
NM_001164279.2:c.-172+41G>A	NP_001157751.1:n.-172+41G>A
NM_001164280.2:c.19G>A	NP_001157752.1:p.Gly7Ser
NM_001467.6:c.19G>A	NP_001458.1:p.Gly7Ser
NM_001164277.2:c.19G>A MANE Select	NP_001157749.1:p.Gly7Ser