Canonical Allele Identifier: CA382902654

Gene: SLC37A4

Linked Data

• MyVariant Identifiers: chr11:g.118898452A>C (hg19) ; chr11:g.119027742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027742A>C , CM000673.2:g.119027742A>C	GRCh38
NC_000011.9:g.118898452A>C , CM000673.1:g.118898452A>C	GRCh37
NC_000011.8:g.118403662A>C	NCBI36
NG_013331.1:g.8165T>G , LRG_187:g.8165T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.741T>G
ENST00000697845.1:n.665T>G
ENST00000697846.1:n.741T>G
ENST00000697847.1:n.741T>G
ENST00000697848.1:n.741T>G
ENST00000697849.1:n.1780T>G
ENST00000697850.1:n.741T>G
ENST00000697851.1:n.2101T>G
ENST00000638186.1:n.815T>G
ENST00000638360.1:n.647T>G
ENST00000638925.1:n.748T>G
ENST00000650539.1:n.917T>G
ENST00000330775.9:c.512T>G	ENSP00000476242.2:p.Leu171Arg
ENST00000357590.9:c.512T>G	ENSP00000476176.2:p.Leu171Arg
ENST00000524428.5:n.833T>G
ENST00000525039.5:n.935T>G
ENST00000525102.5:n.1269T>G
ENST00000525372.5:n.512T>G
ENST00000526275.5:n.1293T>G
ENST00000526626.6:n.474T>G
ENST00000527992.5:n.739T>G
ENST00000529510.5:n.399+452T>G
ENST00000530407.5:n.661T>G
ENST00000532085.1:n.3122T>G
ENST00000532888.6:n.807T>G
ENST00000538950.5:c.293T>G	ENSP00000475991.2:p.Leu98Arg
ENST00000545985.5:c.512T>G	ENSP00000475241.2:p.Leu171Arg
NM_001164277.1:c.512T>G , LRG_187t1:c.512T>G	NP_001157749.1:p.Leu171Arg
NM_001164278.1:c.512T>G	NP_001157750.1:p.Leu171Arg
NM_001164279.1:c.293T>G	NP_001157751.1:p.Leu98Arg
NM_001164280.1:c.512T>G	NP_001157752.1:p.Leu171Arg
NM_001467.5:c.512T>G	NP_001458.1:p.Leu171Arg
NM_001164278.2:c.512T>G	NP_001157750.1:p.Leu171Arg
NM_001164279.2:c.293T>G	NP_001157751.1:p.Leu98Arg
NM_001164280.2:c.512T>G	NP_001157752.1:p.Leu171Arg
NM_001467.6:c.512T>G	NP_001458.1:p.Leu171Arg
NM_001164277.2:c.512T>G MANE Select	NP_001157749.1:p.Leu171Arg