Canonical Allele Identifier: CA229596146

Gene: SLC37A4 TRAPPC4

Linked Data

• dbSNP Id: rs902474458
• gnomAD v2: 11-118895958-T-A
• gnomAD v4: 11-119025248-T-A
• MyVariant Identifiers: chr11:g.118895958T>A (hg19) ; chr11:g.119025248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025248T>A , CM000673.2:g.119025248T>A	GRCh38
NC_000011.9:g.118895958T>A , CM000673.1:g.118895958T>A	GRCh37
NC_000011.8:g.118401168T>A	NCBI36
NG_013331.1:g.10658A>T , LRG_187:g.10658A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1276A>T (SLC37A4)
ENST00000697845.1:n.2265A>T (SLC37A4)
ENST00000697846.1:n.1638A>T (SLC37A4)
ENST00000697847.1:n.1349A>T (SLC37A4)
ENST00000697849.1:n.3742A>T (SLC37A4)
ENST00000697850.1:n.1933A>T (SLC37A4)
ENST00000697851.1:n.2904A>T (SLC37A4)
ENST00000638186.1:n.1370A>T (SLC37A4)
ENST00000638360.1:n.1202A>T (SLC37A4)
ENST00000638925.1:n.1335A>T (SLC37A4)
ENST00000650539.1:n.1538A>T (SLC37A4)
ENST00000330775.9:c.1066A>T (SLC37A4)	ENSP00000476242.2:p.Ser356Cys
ENST00000357590.9:c.1132A>T (SLC37A4)	ENSP00000476176.2:p.Ser378Cys
ENST00000524428.5:n.1302A>T (SLC37A4)
ENST00000525039.5:n.1556A>T (SLC37A4)
ENST00000525102.5:n.1824A>T (SLC37A4)
ENST00000525372.5:n.1164A>T (SLC37A4)
ENST00000526275.5:n.1848A>T (SLC37A4)
ENST00000527992.5:n.1294A>T (SLC37A4)
ENST00000529510.5:n.754A>T (SLC37A4)
ENST00000530407.5:n.1216A>T (SLC37A4)
ENST00000532085.1:n.5084A>T (SLC37A4)
ENST00000533058.5:c.*199T>A (TRAPPC4)	ENSP00000432920.1:n.*199T>A
ENST00000538950.5:c.847A>T (SLC37A4)	ENSP00000475991.2:p.Ser283Cys
ENST00000545985.5:c.1066A>T (SLC37A4)	ENSP00000475241.2:p.Ser356Cys
NM_001164277.1:c.1066A>T , LRG_187t1:c.1066A>T (SLC37A4)	NP_001157749.1:p.Ser356Cys
NM_001164278.1:c.1132A>T (SLC37A4)	NP_001157750.1:p.Ser378Cys
NM_001164279.1:c.847A>T (SLC37A4)	NP_001157751.1:p.Ser283Cys
NM_001164280.1:c.1066A>T (SLC37A4)	NP_001157752.1:p.Ser356Cys
NM_001467.5:c.1066A>T (SLC37A4)	NP_001458.1:p.Ser356Cys
NM_001164278.2:c.1132A>T (SLC37A4)	NP_001157750.1:p.Ser378Cys
NM_001164279.2:c.847A>T (SLC37A4)	NP_001157751.1:p.Ser283Cys
NM_001164280.2:c.1066A>T (SLC37A4)	NP_001157752.1:p.Ser356Cys
NM_001467.6:c.1066A>T (SLC37A4)	NP_001458.1:p.Ser356Cys
NM_001164277.2:c.1066A>T (SLC37A4) MANE Select	NP_001157749.1:p.Ser356Cys