Canonical Allele Identifier: CA382902147

Gene: SLC37A4

Linked Data

• MyVariant Identifiers: chr11:g.118898401G>A (hg19) ; chr11:g.119027691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027691G>A , CM000673.2:g.119027691G>A	GRCh38
NC_000011.9:g.118898401G>A , CM000673.1:g.118898401G>A	GRCh37
NC_000011.8:g.118403611G>A	NCBI36
NG_013331.1:g.8215C>T , LRG_187:g.8215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.792C>T
ENST00000697845.1:n.716C>T
ENST00000697846.1:n.792C>T
ENST00000697847.1:n.792C>T
ENST00000697848.1:n.792C>T
ENST00000697849.1:n.1831C>T
ENST00000697850.1:n.792C>T
ENST00000697851.1:n.2152C>T
ENST00000638186.1:n.866C>T
ENST00000638360.1:n.698C>T
ENST00000638925.1:n.799C>T
ENST00000650539.1:n.968C>T
ENST00000330775.9:c.562C>T	ENSP00000476242.2:p.His188Tyr
ENST00000357590.9:c.562C>T	ENSP00000476176.2:p.His188Tyr
ENST00000524428.5:n.884C>T
ENST00000525039.5:n.986C>T
ENST00000525102.5:n.1320C>T
ENST00000525372.5:n.563C>T
ENST00000526275.5:n.1344C>T
ENST00000526626.6:n.525C>T
ENST00000527992.5:n.790C>T
ENST00000529510.5:n.399+503C>T
ENST00000530407.5:n.712C>T
ENST00000532085.1:n.3173C>T
ENST00000532888.6:n.858C>T
ENST00000538950.5:c.343C>T	ENSP00000475991.2:p.His115Tyr
ENST00000545985.5:c.562C>T	ENSP00000475241.2:p.His188Tyr
NM_001164277.1:c.562C>T , LRG_187t1:c.562C>T	NP_001157749.1:p.His188Tyr
NM_001164278.1:c.562C>T	NP_001157750.1:p.His188Tyr
NM_001164279.1:c.343C>T	NP_001157751.1:p.His115Tyr
NM_001164280.1:c.562C>T	NP_001157752.1:p.His188Tyr
NM_001467.5:c.562C>T	NP_001458.1:p.His188Tyr
NM_001164278.2:c.562C>T	NP_001157750.1:p.His188Tyr
NM_001164279.2:c.343C>T	NP_001157751.1:p.His115Tyr
NM_001164280.2:c.562C>T	NP_001157752.1:p.His188Tyr
NM_001467.6:c.562C>T	NP_001458.1:p.His188Tyr
NM_001164277.2:c.562C>T MANE Select	NP_001157749.1:p.His188Tyr