Canonical Allele Identifier: CA382908952

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1478775690
• gnomAD v3: 11-119029330-A-T
• gnomAD v4: 11-119029330-A-T
• MyVariant Identifiers: chr11:g.118900040A>T (hg19) ; chr11:g.119029330A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029330A>T , CM000673.2:g.119029330A>T	GRCh38
NC_000011.9:g.118900040A>T , CM000673.1:g.118900040A>T	GRCh37
NC_000011.8:g.118405250A>T	NCBI36
NG_013331.1:g.6577T>A , LRG_187:g.6577T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.269T>A
ENST00000697846.1:n.269T>A
ENST00000697847.1:n.269T>A
ENST00000697848.1:n.269T>A
ENST00000697849.1:n.513T>A
ENST00000697850.1:n.269T>A
ENST00000697851.1:n.513T>A
ENST00000638186.1:n.343T>A
ENST00000638360.1:n.277T>A
ENST00000638925.1:n.276T>A
ENST00000650539.1:n.445T>A
ENST00000330775.9:c.40T>A	ENSP00000476242.2:p.Phe14Ile
ENST00000357590.9:c.40T>A	ENSP00000476176.2:p.Phe14Ile
ENST00000524428.5:n.40T>A
ENST00000525039.5:n.463T>A
ENST00000525102.5:n.797T>A
ENST00000525372.5:n.40T>A
ENST00000525787.1:n.335T>A
ENST00000526626.6:n.235T>A
ENST00000527992.5:n.267T>A
ENST00000529510.5:n.58T>A
ENST00000530407.5:n.197+62T>A
ENST00000532085.1:n.1534T>A
ENST00000532888.6:n.235T>A
ENST00000534384.1:n.260T>A
ENST00000538950.5:c.-172+62T>A	ENSP00000475991.2:n.-172+62T>A
ENST00000545985.5:c.40T>A	ENSP00000475241.2:p.Phe14Ile
NM_001164277.1:c.40T>A , LRG_187t1:c.40T>A	NP_001157749.1:p.Phe14Ile
NM_001164278.1:c.40T>A	NP_001157750.1:p.Phe14Ile
NM_001164279.1:c.-172+62T>A	NP_001157751.1:n.-172+62T>A
NM_001164280.1:c.40T>A	NP_001157752.1:p.Phe14Ile
NM_001467.5:c.40T>A	NP_001458.1:p.Phe14Ile
NM_001164278.2:c.40T>A	NP_001157750.1:p.Phe14Ile
NM_001164279.2:c.-172+62T>A	NP_001157751.1:n.-172+62T>A
NM_001164280.2:c.40T>A	NP_001157752.1:p.Phe14Ile
NM_001467.6:c.40T>A	NP_001458.1:p.Phe14Ile
NM_001164277.2:c.40T>A MANE Select	NP_001157749.1:p.Phe14Ile