Canonical Allele Identifier: CA382906019

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119028361-C-A
• MyVariant Identifiers: chr11:g.118899071C>A (hg19) ; chr11:g.119028361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028361C>A , CM000673.2:g.119028361C>A	GRCh38
NC_000011.9:g.118899071C>A , CM000673.1:g.118899071C>A	GRCh37
NC_000011.8:g.118404281C>A	NCBI36
NG_013331.1:g.7546G>T , LRG_187:g.7546G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.443G>T
ENST00000697845.1:n.367G>T
ENST00000697846.1:n.443G>T
ENST00000697847.1:n.443G>T
ENST00000697848.1:n.443G>T
ENST00000697849.1:n.1482G>T
ENST00000697850.1:n.443G>T
ENST00000697851.1:n.1482G>T
ENST00000638186.1:n.517G>T
ENST00000638360.1:n.451G>T
ENST00000638925.1:n.450G>T
ENST00000650539.1:n.619G>T
ENST00000330775.9:c.214G>T	ENSP00000476242.2:p.Asp72Tyr
ENST00000357590.9:c.214G>T	ENSP00000476176.2:p.Asp72Tyr
ENST00000524428.5:n.214G>T
ENST00000525039.5:n.637G>T
ENST00000525102.5:n.971G>T
ENST00000525372.5:n.214G>T
ENST00000525787.1:n.509G>T
ENST00000526275.5:n.674G>T
ENST00000526626.6:n.344-489G>T
ENST00000527992.5:n.441G>T
ENST00000529510.5:n.232G>T
ENST00000530407.5:n.363G>T
ENST00000532085.1:n.2503G>T
ENST00000532888.6:n.509G>T
ENST00000534384.1:n.434G>T
ENST00000538950.5:c.-6G>T	ENSP00000475991.2:n.-6G>T
ENST00000545985.5:c.214G>T	ENSP00000475241.2:p.Asp72Tyr
NM_001164277.1:c.214G>T , LRG_187t1:c.214G>T	NP_001157749.1:p.Asp72Tyr
NM_001164278.1:c.214G>T	NP_001157750.1:p.Asp72Tyr
NM_001164279.1:c.-6G>T	NP_001157751.1:n.-6G>T
NM_001164280.1:c.214G>T	NP_001157752.1:p.Asp72Tyr
NM_001467.5:c.214G>T	NP_001458.1:p.Asp72Tyr
NM_001164278.2:c.214G>T	NP_001157750.1:p.Asp72Tyr
NM_001164279.2:c.-6G>T	NP_001157751.1:n.-6G>T
NM_001164280.2:c.214G>T	NP_001157752.1:p.Asp72Tyr
NM_001467.6:c.214G>T	NP_001458.1:p.Asp72Tyr
NM_001164277.2:c.214G>T MANE Select	NP_001157749.1:p.Asp72Tyr