Canonical Allele Identifier: CA382901391

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1280281642
• gnomAD v2: 11-118897737-C-A
• MyVariant Identifiers: chr11:g.118897737C>A (hg19) ; chr11:g.119027027C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027027C>A , CM000673.2:g.119027027C>A	GRCh38
NC_000011.9:g.118897737C>A , CM000673.1:g.118897737C>A	GRCh37
NC_000011.8:g.118402947C>A	NCBI36
NG_013331.1:g.8879G>T , LRG_187:g.8879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.924G>T
ENST00000697845.1:n.848G>T
ENST00000697846.1:n.924G>T
ENST00000697847.1:n.924G>T
ENST00000697848.1:n.924G>T
ENST00000697849.1:n.1963G>T
ENST00000697850.1:n.924G>T
ENST00000697851.1:n.2284G>T
ENST00000638186.1:n.998G>T
ENST00000638360.1:n.830G>T
ENST00000638925.1:n.931G>T
ENST00000650539.1:n.1100G>T
ENST00000330775.9:c.694G>T	ENSP00000476242.2:p.Gly232Cys
ENST00000357590.9:c.694G>T	ENSP00000476176.2:p.Gly232Cys
ENST00000524428.5:n.1016G>T
ENST00000525039.5:n.1118G>T
ENST00000525102.5:n.1452G>T
ENST00000525372.5:n.695G>T
ENST00000526275.5:n.1476G>T
ENST00000526626.6:n.657G>T
ENST00000527992.5:n.922G>T
ENST00000529510.5:n.468G>T
ENST00000530407.5:n.844G>T
ENST00000532085.1:n.3305G>T
ENST00000532888.6:n.990G>T
ENST00000538950.5:c.475G>T	ENSP00000475991.2:p.Gly159Cys
ENST00000545985.5:c.694G>T	ENSP00000475241.2:p.Gly232Cys
NM_001164277.1:c.694G>T , LRG_187t1:c.694G>T	NP_001157749.1:p.Gly232Cys
NM_001164278.1:c.694G>T	NP_001157750.1:p.Gly232Cys
NM_001164279.1:c.475G>T	NP_001157751.1:p.Gly159Cys
NM_001164280.1:c.694G>T	NP_001157752.1:p.Gly232Cys
NM_001467.5:c.694G>T	NP_001458.1:p.Gly232Cys
NM_001164278.2:c.694G>T	NP_001157750.1:p.Gly232Cys
NM_001164279.2:c.475G>T	NP_001157751.1:p.Gly159Cys
NM_001164280.2:c.694G>T	NP_001157752.1:p.Gly232Cys
NM_001467.6:c.694G>T	NP_001458.1:p.Gly232Cys
NM_001164277.2:c.694G>T MANE Select	NP_001157749.1:p.Gly232Cys