Canonical Allele Identifier: CA382900829

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026946-C-G
• MyVariant Identifiers: chr11:g.118897656C>G (hg19) ; chr11:g.119026946C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026946C>G , CM000673.2:g.119026946C>G	GRCh38
NC_000011.9:g.118897656C>G , CM000673.1:g.118897656C>G	GRCh37
NC_000011.8:g.118402866C>G	NCBI36
NG_013331.1:g.8960G>C , LRG_187:g.8960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1005G>C
ENST00000697845.1:n.929G>C
ENST00000697846.1:n.1005G>C
ENST00000697847.1:n.1005G>C
ENST00000697848.1:n.1005G>C
ENST00000697849.1:n.2044G>C
ENST00000697850.1:n.1005G>C
ENST00000697851.1:n.2365G>C
ENST00000638186.1:n.1079G>C
ENST00000638360.1:n.911G>C
ENST00000638925.1:n.1012G>C
ENST00000650539.1:n.1181G>C
ENST00000330775.9:c.775G>C	ENSP00000476242.2:p.Ala259Pro
ENST00000357590.9:c.775G>C	ENSP00000476176.2:p.Ala259Pro
ENST00000524428.5:n.1097G>C
ENST00000525039.5:n.1199G>C
ENST00000525102.5:n.1533G>C
ENST00000525372.5:n.776G>C
ENST00000526275.5:n.1557G>C
ENST00000527992.5:n.1003G>C
ENST00000529510.5:n.549G>C
ENST00000530407.5:n.925G>C
ENST00000532085.1:n.3386G>C
ENST00000532888.6:n.1071G>C
ENST00000538950.5:c.556G>C	ENSP00000475991.2:p.Ala186Pro
ENST00000545985.5:c.775G>C	ENSP00000475241.2:p.Ala259Pro
NM_001164277.1:c.775G>C , LRG_187t1:c.775G>C	NP_001157749.1:p.Ala259Pro
NM_001164278.1:c.775G>C	NP_001157750.1:p.Ala259Pro
NM_001164279.1:c.556G>C	NP_001157751.1:p.Ala186Pro
NM_001164280.1:c.775G>C	NP_001157752.1:p.Ala259Pro
NM_001467.5:c.775G>C	NP_001458.1:p.Ala259Pro
NM_001164278.2:c.775G>C	NP_001157750.1:p.Ala259Pro
NM_001164279.2:c.556G>C	NP_001157751.1:p.Ala186Pro
NM_001164280.2:c.775G>C	NP_001157752.1:p.Ala259Pro
NM_001467.6:c.775G>C	NP_001458.1:p.Ala259Pro
NM_001164277.2:c.775G>C MANE Select	NP_001157749.1:p.Ala259Pro