Canonical Allele Identifier: CA382897013

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119025757-C-A
• MyVariant Identifiers: chr11:g.118896467C>A (hg19) ; chr11:g.119025757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025757C>A , CM000673.2:g.119025757C>A	GRCh38
NC_000011.9:g.118896467C>A , CM000673.1:g.118896467C>A	GRCh37
NC_000011.8:g.118401677C>A	NCBI36
NG_013331.1:g.10149G>T , LRG_187:g.10149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1129G>T
ENST00000697845.1:n.2118G>T
ENST00000697846.1:n.1129G>T
ENST00000697847.1:n.1202G>T
ENST00000697848.1:n.1215G>T
ENST00000697849.1:n.3233G>T
ENST00000697850.1:n.1424G>T
ENST00000697851.1:n.2822+210G>T
ENST00000638186.1:n.1288+210G>T
ENST00000638360.1:n.1120+210G>T
ENST00000638925.1:n.1253+210G>T
ENST00000650539.1:n.1391G>T
ENST00000330775.9:c.984+210G>T	ENSP00000476242.2:n.984+210G>T
ENST00000357590.9:c.985G>T	ENSP00000476176.2:p.Asp329Tyr
ENST00000524428.5:n.1220+210G>T
ENST00000525039.5:n.1409G>T
ENST00000525102.5:n.1742+210G>T
ENST00000525372.5:n.1082+210G>T
ENST00000526275.5:n.1766+210G>T
ENST00000527992.5:n.1212+210G>T
ENST00000529510.5:n.672+210G>T
ENST00000530407.5:n.1134+210G>T
ENST00000532085.1:n.4575G>T
ENST00000538950.5:c.765+210G>T	ENSP00000475991.2:n.765+210G>T
ENST00000545985.5:c.984+210G>T	ENSP00000475241.2:n.984+210G>T
NM_001164277.1:c.984+210G>T , LRG_187t1:c.984+210G>T	NP_001157749.1:n.984+210G>T
NM_001164278.1:c.985G>T	NP_001157750.1:p.Asp329Tyr
NM_001164279.1:c.765+210G>T	NP_001157751.1:n.765+210G>T
NM_001164280.1:c.984+210G>T	NP_001157752.1:n.984+210G>T
NM_001467.5:c.984+210G>T	NP_001458.1:n.984+210G>T
NM_001164278.2:c.985G>T	NP_001157750.1:p.Asp329Tyr
NM_001164279.2:c.765+210G>T	NP_001157751.1:n.765+210G>T
NM_001164280.2:c.984+210G>T	NP_001157752.1:n.984+210G>T
NM_001467.6:c.984+210G>T	NP_001458.1:n.984+210G>T
NM_001164277.2:c.984+210G>T MANE Select	NP_001157749.1:n.984+210G>T