Canonical Allele Identifier: CA382901811

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027631-T-G
• MyVariant Identifiers: chr11:g.118898341T>G (hg19) ; chr11:g.119027631T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027631T>G , CM000673.2:g.119027631T>G	GRCh38
NC_000011.9:g.118898341T>G , CM000673.1:g.118898341T>G	GRCh37
NC_000011.8:g.118403551T>G	NCBI36
NG_013331.1:g.8275A>C , LRG_187:g.8275A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.852A>C
ENST00000697845.1:n.776A>C
ENST00000697846.1:n.852A>C
ENST00000697847.1:n.852A>C
ENST00000697848.1:n.852A>C
ENST00000697849.1:n.1891A>C
ENST00000697850.1:n.852A>C
ENST00000697851.1:n.2212A>C
ENST00000638186.1:n.926A>C
ENST00000638360.1:n.758A>C
ENST00000638925.1:n.859A>C
ENST00000650539.1:n.1028A>C
ENST00000330775.9:c.622A>C	ENSP00000476242.2:p.Lys208Gln
ENST00000357590.9:c.622A>C	ENSP00000476176.2:p.Lys208Gln
ENST00000524428.5:n.944A>C
ENST00000525039.5:n.1046A>C
ENST00000525102.5:n.1380A>C
ENST00000525372.5:n.623A>C
ENST00000526275.5:n.1404A>C
ENST00000526626.6:n.585A>C
ENST00000527992.5:n.850A>C
ENST00000529510.5:n.400-536A>C
ENST00000530407.5:n.772A>C
ENST00000532085.1:n.3233A>C
ENST00000532888.6:n.918A>C
ENST00000538950.5:c.403A>C	ENSP00000475991.2:p.Lys135Gln
ENST00000545985.5:c.622A>C	ENSP00000475241.2:p.Lys208Gln
NM_001164277.1:c.622A>C , LRG_187t1:c.622A>C	NP_001157749.1:p.Lys208Gln
NM_001164278.1:c.622A>C	NP_001157750.1:p.Lys208Gln
NM_001164279.1:c.403A>C	NP_001157751.1:p.Lys135Gln
NM_001164280.1:c.622A>C	NP_001157752.1:p.Lys208Gln
NM_001467.5:c.622A>C	NP_001458.1:p.Lys208Gln
NM_001164278.2:c.622A>C	NP_001157750.1:p.Lys208Gln
NM_001164279.2:c.403A>C	NP_001157751.1:p.Lys135Gln
NM_001164280.2:c.622A>C	NP_001157752.1:p.Lys208Gln
NM_001467.6:c.622A>C	NP_001458.1:p.Lys208Gln
NM_001164277.2:c.622A>C MANE Select	NP_001157749.1:p.Lys208Gln