Canonical Allele Identifier: CA229597212

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2182999
• ClinVar RCV Id: RCV002611137
• dbSNP Id: rs539911116
• gnomAD v2: 11-118896760-G-A
• gnomAD v3: 11-119026050-G-A
• gnomAD v4: 11-119026050-G-A
• MyVariant Identifiers: chr11:g.118896760G>A (hg19) ; chr11:g.119026050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026050G>A , CM000673.2:g.119026050G>A	GRCh38
NC_000011.9:g.118896760G>A , CM000673.1:g.118896760G>A	GRCh37
NC_000011.8:g.118401970G>A	NCBI36
NG_013331.1:g.9856C>T , LRG_187:g.9856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1045C>T
ENST00000697845.1:n.1825C>T
ENST00000697846.1:n.1045C>T
ENST00000697847.1:n.1202-293C>T
ENST00000697848.1:n.1131C>T
ENST00000697849.1:n.2940C>T
ENST00000697850.1:n.1131C>T
ENST00000697851.1:n.2739C>T
ENST00000638186.1:n.1205C>T
ENST00000638360.1:n.1037C>T
ENST00000638925.1:n.1170C>T
ENST00000650539.1:n.1307C>T
ENST00000330775.9:c.901C>T	ENSP00000476242.2:p.His301Tyr
ENST00000357590.9:c.901C>T	ENSP00000476176.2:p.His301Tyr
ENST00000524428.5:n.1137C>T
ENST00000525039.5:n.1325C>T
ENST00000525102.5:n.1659C>T
ENST00000525372.5:n.999C>T
ENST00000526275.5:n.1683C>T
ENST00000527992.5:n.1129C>T
ENST00000529510.5:n.589C>T
ENST00000530407.5:n.1051C>T
ENST00000532085.1:n.4282C>T
ENST00000538950.5:c.682C>T	ENSP00000475991.2:p.His228Tyr
ENST00000545985.5:c.901C>T	ENSP00000475241.2:p.His301Tyr
NM_001164277.1:c.901C>T , LRG_187t1:c.901C>T	NP_001157749.1:p.His301Tyr
NM_001164278.1:c.901C>T	NP_001157750.1:p.His301Tyr
NM_001164279.1:c.682C>T	NP_001157751.1:p.His228Tyr
NM_001164280.1:c.901C>T	NP_001157752.1:p.His301Tyr
NM_001467.5:c.901C>T	NP_001458.1:p.His301Tyr
NM_001164278.2:c.901C>T	NP_001157750.1:p.His301Tyr
NM_001164279.2:c.682C>T	NP_001157751.1:p.His228Tyr
NM_001164280.2:c.901C>T	NP_001157752.1:p.His301Tyr
NM_001467.6:c.901C>T	NP_001458.1:p.His301Tyr
NM_001164277.2:c.901C>T MANE Select	NP_001157749.1:p.His301Tyr