Canonical Allele Identifier: CA382897958

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1243796629
• gnomAD v2: 11-118896758-A-T
• gnomAD v4: 11-119026048-A-T
• MyVariant Identifiers: chr11:g.118896758A>T (hg19) ; chr11:g.119026048A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026048A>T , CM000673.2:g.119026048A>T	GRCh38
NC_000011.9:g.118896758A>T , CM000673.1:g.118896758A>T	GRCh37
NC_000011.8:g.118401968A>T	NCBI36
NG_013331.1:g.9858T>A , LRG_187:g.9858T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1047T>A
ENST00000697845.1:n.1827T>A
ENST00000697846.1:n.1047T>A
ENST00000697847.1:n.1202-291T>A
ENST00000697848.1:n.1133T>A
ENST00000697849.1:n.2942T>A
ENST00000697850.1:n.1133T>A
ENST00000697851.1:n.2741T>A
ENST00000638186.1:n.1207T>A
ENST00000638360.1:n.1039T>A
ENST00000638925.1:n.1172T>A
ENST00000650539.1:n.1309T>A
ENST00000330775.9:c.903T>A	ENSP00000476242.2:p.His301Gln
ENST00000357590.9:c.903T>A	ENSP00000476176.2:p.His301Gln
ENST00000524428.5:n.1139T>A
ENST00000525039.5:n.1327T>A
ENST00000525102.5:n.1661T>A
ENST00000525372.5:n.1001T>A
ENST00000526275.5:n.1685T>A
ENST00000527992.5:n.1131T>A
ENST00000529510.5:n.591T>A
ENST00000530407.5:n.1053T>A
ENST00000532085.1:n.4284T>A
ENST00000538950.5:c.684T>A	ENSP00000475991.2:p.His228Gln
ENST00000545985.5:c.903T>A	ENSP00000475241.2:p.His301Gln
NM_001164277.1:c.903T>A , LRG_187t1:c.903T>A	NP_001157749.1:p.His301Gln
NM_001164278.1:c.903T>A	NP_001157750.1:p.His301Gln
NM_001164279.1:c.684T>A	NP_001157751.1:p.His228Gln
NM_001164280.1:c.903T>A	NP_001157752.1:p.His301Gln
NM_001467.5:c.903T>A	NP_001458.1:p.His301Gln
NM_001164278.2:c.903T>A	NP_001157750.1:p.His301Gln
NM_001164279.2:c.684T>A	NP_001157751.1:p.His228Gln
NM_001164280.2:c.903T>A	NP_001157752.1:p.His301Gln
NM_001467.6:c.903T>A	NP_001458.1:p.His301Gln
NM_001164277.2:c.903T>A MANE Select	NP_001157749.1:p.His301Gln