Canonical Allele Identifier: CA229601727

Gene: SLC37A4

Linked Data

• dbSNP Id: rs542004968
• gnomAD v2: 11-118900443-A-G
• gnomAD v3: 11-119029733-A-G
• gnomAD v4: 11-119029733-A-G
• MyVariant Identifiers: chr11:g.118900443A>G (hg19) ; chr11:g.119029733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029733A>G , CM000673.2:g.119029733A>G	GRCh38
NC_000011.9:g.118900443A>G , CM000673.1:g.118900443A>G	GRCh37
NC_000011.8:g.118405653A>G	NCBI36
NG_013331.1:g.6174T>C , LRG_187:g.6174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.35-169T>C
ENST00000697846.1:n.35-169T>C
ENST00000697847.1:n.35-169T>C
ENST00000697848.1:n.35-169T>C
ENST00000697849.1:n.110T>C
ENST00000697850.1:n.35-169T>C
ENST00000697851.1:n.110T>C
ENST00000638186.1:n.108+134T>C
ENST00000638360.1:n.43-169T>C
ENST00000638925.1:n.42-169T>C
ENST00000650539.1:n.211-169T>C
ENST00000330775.9:c.-195-169T>C	ENSP00000476242.2:n.-195-169T>C
ENST00000357590.9:c.-195-169T>C	ENSP00000476176.2:n.-195-169T>C
ENST00000525039.5:n.229-169T>C
ENST00000525102.5:n.563-169T>C
ENST00000527992.5:n.33-169T>C
ENST00000530407.5:n.25-169T>C
ENST00000532085.1:n.1131T>C
ENST00000534384.1:n.26-169T>C
ENST00000538950.5:c.-344-169T>C	ENSP00000475991.2:n.-344-169T>C
ENST00000545985.5:c.-195-169T>C	ENSP00000475241.2:n.-195-169T>C
NM_001164277.1:c.-195-169T>C , LRG_187t1:c.-195-169T>C	NP_001157749.1:n.-195-169T>C
NM_001164278.1:c.-195-169T>C	NP_001157750.1:n.-195-169T>C
NM_001164279.1:c.-344-169T>C	NP_001157751.1:n.-344-169T>C
NM_001467.5:c.-195-169T>C	NP_001458.1:n.-195-169T>C
NM_001164278.2:c.-195-169T>C	NP_001157750.1:n.-195-169T>C
NM_001164279.2:c.-344-169T>C	NP_001157751.1:n.-344-169T>C
NM_001467.6:c.-195-169T>C	NP_001458.1:n.-195-169T>C
NM_001164277.2:c.-195-169T>C MANE Select	NP_001157749.1:n.-195-169T>C