Canonical Allele Identifier: CA477125117

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026072-C-A
• MyVariant Identifiers: chr11:g.118896782C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026072C>A , CM000673.2:g.119026072C>A	GRCh38
NC_000011.9:g.118896782C>A , CM000673.1:g.118896782C>A	GRCh37
NC_000011.8:g.118401992C>A	NCBI36
NG_013331.1:g.9834G>T , LRG_187:g.9834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1023G>T
ENST00000697845.1:n.1803G>T
ENST00000697846.1:n.1023G>T
ENST00000697847.1:n.1202-315G>T
ENST00000697848.1:n.1109G>T
ENST00000697849.1:n.2918G>T
ENST00000697850.1:n.1109G>T
ENST00000697851.1:n.2717G>T
ENST00000638186.1:n.1183G>T
ENST00000638360.1:n.1015G>T
ENST00000638925.1:n.1148G>T
ENST00000650539.1:n.1285G>T
ENST00000330775.9:c.879G>T	ENSP00000476242.2:p.Leu293=
ENST00000357590.9:c.879G>T	ENSP00000476176.2:p.Leu293=
ENST00000524428.5:n.1115G>T
ENST00000525039.5:n.1303G>T
ENST00000525102.5:n.1637G>T
ENST00000525372.5:n.977G>T
ENST00000526275.5:n.1661G>T
ENST00000527992.5:n.1107G>T
ENST00000529510.5:n.567G>T
ENST00000530407.5:n.1029G>T
ENST00000532085.1:n.4260G>T
ENST00000538950.5:c.660G>T	ENSP00000475991.2:p.Leu220=
ENST00000545985.5:c.879G>T	ENSP00000475241.2:p.Leu293=
NM_001164277.1:c.879G>T , LRG_187t1:c.879G>T	NP_001157749.1:p.Leu293=
NM_001164278.1:c.879G>T	NP_001157750.1:p.Leu293=
NM_001164279.1:c.660G>T	NP_001157751.1:p.Leu220=
NM_001164280.1:c.879G>T	NP_001157752.1:p.Leu293=
NM_001467.5:c.879G>T	NP_001458.1:p.Leu293=
NM_001164278.2:c.879G>T	NP_001157750.1:p.Leu293=
NM_001164279.2:c.660G>T	NP_001157751.1:p.Leu220=
NM_001164280.2:c.879G>T	NP_001157752.1:p.Leu293=
NM_001467.6:c.879G>T	NP_001458.1:p.Leu293=
NM_001164277.2:c.879G>T MANE Select	NP_001157749.1:p.Leu293=