Canonical Allele Identifier: CA382898071

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026062-C-A
• MyVariant Identifiers: chr11:g.118896772C>A (hg19) ; chr11:g.119026062C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026062C>A , CM000673.2:g.119026062C>A	GRCh38
NC_000011.9:g.118896772C>A , CM000673.1:g.118896772C>A	GRCh37
NC_000011.8:g.118401982C>A	NCBI36
NG_013331.1:g.9844G>T , LRG_187:g.9844G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1033G>T
ENST00000697845.1:n.1813G>T
ENST00000697846.1:n.1033G>T
ENST00000697847.1:n.1202-305G>T
ENST00000697848.1:n.1119G>T
ENST00000697849.1:n.2928G>T
ENST00000697850.1:n.1119G>T
ENST00000697851.1:n.2727G>T
ENST00000638186.1:n.1193G>T
ENST00000638360.1:n.1025G>T
ENST00000638925.1:n.1158G>T
ENST00000650539.1:n.1295G>T
ENST00000330775.9:c.889G>T	ENSP00000476242.2:p.Gly297Trp
ENST00000357590.9:c.889G>T	ENSP00000476176.2:p.Gly297Trp
ENST00000524428.5:n.1125G>T
ENST00000525039.5:n.1313G>T
ENST00000525102.5:n.1647G>T
ENST00000525372.5:n.987G>T
ENST00000526275.5:n.1671G>T
ENST00000527992.5:n.1117G>T
ENST00000529510.5:n.577G>T
ENST00000530407.5:n.1039G>T
ENST00000532085.1:n.4270G>T
ENST00000538950.5:c.670G>T	ENSP00000475991.2:p.Gly224Trp
ENST00000545985.5:c.889G>T	ENSP00000475241.2:p.Gly297Trp
NM_001164277.1:c.889G>T , LRG_187t1:c.889G>T	NP_001157749.1:p.Gly297Trp
NM_001164278.1:c.889G>T	NP_001157750.1:p.Gly297Trp
NM_001164279.1:c.670G>T	NP_001157751.1:p.Gly224Trp
NM_001164280.1:c.889G>T	NP_001157752.1:p.Gly297Trp
NM_001467.5:c.889G>T	NP_001458.1:p.Gly297Trp
NM_001164278.2:c.889G>T	NP_001157750.1:p.Gly297Trp
NM_001164279.2:c.670G>T	NP_001157751.1:p.Gly224Trp
NM_001164280.2:c.889G>T	NP_001157752.1:p.Gly297Trp
NM_001467.6:c.889G>T	NP_001458.1:p.Gly297Trp
NM_001164277.2:c.889G>T MANE Select	NP_001157749.1:p.Gly297Trp