Canonical Allele Identifier: CA382902005

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027661-T-G
• MyVariant Identifiers: chr11:g.118898371T>G (hg19) ; chr11:g.119027661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027661T>G , CM000673.2:g.119027661T>G	GRCh38
NC_000011.9:g.118898371T>G , CM000673.1:g.118898371T>G	GRCh37
NC_000011.8:g.118403581T>G	NCBI36
NG_013331.1:g.8245A>C , LRG_187:g.8245A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.822A>C
ENST00000697845.1:n.746A>C
ENST00000697846.1:n.822A>C
ENST00000697847.1:n.822A>C
ENST00000697848.1:n.822A>C
ENST00000697849.1:n.1861A>C
ENST00000697850.1:n.822A>C
ENST00000697851.1:n.2182A>C
ENST00000638186.1:n.896A>C
ENST00000638360.1:n.728A>C
ENST00000638925.1:n.829A>C
ENST00000650539.1:n.998A>C
ENST00000330775.9:c.592A>C	ENSP00000476242.2:p.Asn198His
ENST00000357590.9:c.592A>C	ENSP00000476176.2:p.Asn198His
ENST00000524428.5:n.914A>C
ENST00000525039.5:n.1016A>C
ENST00000525102.5:n.1350A>C
ENST00000525372.5:n.593A>C
ENST00000526275.5:n.1374A>C
ENST00000526626.6:n.555A>C
ENST00000527992.5:n.820A>C
ENST00000529510.5:n.399+533A>C
ENST00000530407.5:n.742A>C
ENST00000532085.1:n.3203A>C
ENST00000532888.6:n.888A>C
ENST00000538950.5:c.373A>C	ENSP00000475991.2:p.Asn125His
ENST00000545985.5:c.592A>C	ENSP00000475241.2:p.Asn198His
NM_001164277.1:c.592A>C , LRG_187t1:c.592A>C	NP_001157749.1:p.Asn198His
NM_001164278.1:c.592A>C	NP_001157750.1:p.Asn198His
NM_001164279.1:c.373A>C	NP_001157751.1:p.Asn125His
NM_001164280.1:c.592A>C	NP_001157752.1:p.Asn198His
NM_001467.5:c.592A>C	NP_001458.1:p.Asn198His
NM_001164278.2:c.592A>C	NP_001157750.1:p.Asn198His
NM_001164279.2:c.373A>C	NP_001157751.1:p.Asn125His
NM_001164280.2:c.592A>C	NP_001157752.1:p.Asn198His
NM_001467.6:c.592A>C	NP_001458.1:p.Asn198His
NM_001164277.2:c.592A>C MANE Select	NP_001157749.1:p.Asn198His