Canonical Allele Identifier: CA382901217

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027001-C-A
• MyVariant Identifiers: chr11:g.118897711C>A (hg19) ; chr11:g.119027001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027001C>A , CM000673.2:g.119027001C>A	GRCh38
NC_000011.9:g.118897711C>A , CM000673.1:g.118897711C>A	GRCh37
NC_000011.8:g.118402921C>A	NCBI36
NG_013331.1:g.8905G>T , LRG_187:g.8905G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.950G>T
ENST00000697845.1:n.874G>T
ENST00000697846.1:n.950G>T
ENST00000697847.1:n.950G>T
ENST00000697848.1:n.950G>T
ENST00000697849.1:n.1989G>T
ENST00000697850.1:n.950G>T
ENST00000697851.1:n.2310G>T
ENST00000638186.1:n.1024G>T
ENST00000638360.1:n.856G>T
ENST00000638925.1:n.957G>T
ENST00000650539.1:n.1126G>T
ENST00000330775.9:c.720G>T	ENSP00000476242.2:p.Lys240Asn
ENST00000357590.9:c.720G>T	ENSP00000476176.2:p.Lys240Asn
ENST00000524428.5:n.1042G>T
ENST00000525039.5:n.1144G>T
ENST00000525102.5:n.1478G>T
ENST00000525372.5:n.721G>T
ENST00000526275.5:n.1502G>T
ENST00000526626.6:n.683G>T
ENST00000527992.5:n.948G>T
ENST00000529510.5:n.494G>T
ENST00000530407.5:n.870G>T
ENST00000532085.1:n.3331G>T
ENST00000532888.6:n.1016G>T
ENST00000538950.5:c.501G>T	ENSP00000475991.2:p.Lys167Asn
ENST00000545985.5:c.720G>T	ENSP00000475241.2:p.Lys240Asn
NM_001164277.1:c.720G>T , LRG_187t1:c.720G>T	NP_001157749.1:p.Lys240Asn
NM_001164278.1:c.720G>T	NP_001157750.1:p.Lys240Asn
NM_001164279.1:c.501G>T	NP_001157751.1:p.Lys167Asn
NM_001164280.1:c.720G>T	NP_001157752.1:p.Lys240Asn
NM_001467.5:c.720G>T	NP_001458.1:p.Lys240Asn
NM_001164278.2:c.720G>T	NP_001157750.1:p.Lys240Asn
NM_001164279.2:c.501G>T	NP_001157751.1:p.Lys167Asn
NM_001164280.2:c.720G>T	NP_001157752.1:p.Lys240Asn
NM_001467.6:c.720G>T	NP_001458.1:p.Lys240Asn
NM_001164277.2:c.720G>T MANE Select	NP_001157749.1:p.Lys240Asn