Canonical Allele Identifier: CA382897129

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2160131
• ClinVar RCV Id: RCV003075793
• dbSNP Id: rs1218836083
• gnomAD v2: 11-118896682-G-A
• gnomAD v4: 11-119025972-G-A
• MyVariant Identifiers: chr11:g.118896682G>A (hg19) ; chr11:g.119025972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025972G>A , CM000673.2:g.119025972G>A	GRCh38
NC_000011.9:g.118896682G>A , CM000673.1:g.118896682G>A	GRCh37
NC_000011.8:g.118401892G>A	NCBI36
NG_013331.1:g.9934C>T , LRG_187:g.9934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1123C>T
ENST00000697845.1:n.1903C>T
ENST00000697846.1:n.1123C>T
ENST00000697847.1:n.1202-215C>T
ENST00000697848.1:n.1209C>T
ENST00000697849.1:n.3018C>T
ENST00000697850.1:n.1209C>T
ENST00000697851.1:n.2817C>T
ENST00000638186.1:n.1283C>T
ENST00000638360.1:n.1115C>T
ENST00000638925.1:n.1248C>T
ENST00000650539.1:n.1385C>T
ENST00000330775.9:c.979C>T	ENSP00000476242.2:p.Pro327Ser
ENST00000357590.9:c.979C>T	ENSP00000476176.2:p.Pro327Ser
ENST00000524428.5:n.1215C>T
ENST00000525039.5:n.1403C>T
ENST00000525102.5:n.1737C>T
ENST00000525372.5:n.1077C>T
ENST00000526275.5:n.1761C>T
ENST00000527992.5:n.1207C>T
ENST00000529510.5:n.667C>T
ENST00000530407.5:n.1129C>T
ENST00000532085.1:n.4360C>T
ENST00000538950.5:c.760C>T	ENSP00000475991.2:p.Pro254Ser
ENST00000545985.5:c.979C>T	ENSP00000475241.2:p.Pro327Ser
NM_001164277.1:c.979C>T , LRG_187t1:c.979C>T	NP_001157749.1:p.Pro327Ser
NM_001164278.1:c.979C>T	NP_001157750.1:p.Pro327Ser
NM_001164279.1:c.760C>T	NP_001157751.1:p.Pro254Ser
NM_001164280.1:c.979C>T	NP_001157752.1:p.Pro327Ser
NM_001467.5:c.979C>T	NP_001458.1:p.Pro327Ser
NM_001164278.2:c.979C>T	NP_001157750.1:p.Pro327Ser
NM_001164279.2:c.760C>T	NP_001157751.1:p.Pro254Ser
NM_001164280.2:c.979C>T	NP_001157752.1:p.Pro327Ser
NM_001467.6:c.979C>T	NP_001458.1:p.Pro327Ser
NM_001164277.2:c.979C>T MANE Select	NP_001157749.1:p.Pro327Ser