Canonical Allele Identifier: CA382902400

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027715-A-G
• MyVariant Identifiers: chr11:g.118898425A>G (hg19) ; chr11:g.119027715A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027715A>G , CM000673.2:g.119027715A>G	GRCh38
NC_000011.9:g.118898425A>G , CM000673.1:g.118898425A>G	GRCh37
NC_000011.8:g.118403635A>G	NCBI36
NG_013331.1:g.8191T>C , LRG_187:g.8191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.768T>C
ENST00000697845.1:n.692T>C
ENST00000697846.1:n.768T>C
ENST00000697847.1:n.768T>C
ENST00000697848.1:n.768T>C
ENST00000697849.1:n.1807T>C
ENST00000697850.1:n.768T>C
ENST00000697851.1:n.2128T>C
ENST00000638186.1:n.842T>C
ENST00000638360.1:n.674T>C
ENST00000638925.1:n.775T>C
ENST00000650539.1:n.944T>C
ENST00000330775.9:c.538T>C	ENSP00000476242.2:p.Ser180Pro
ENST00000357590.9:c.538T>C	ENSP00000476176.2:p.Ser180Pro
ENST00000524428.5:n.860T>C
ENST00000525039.5:n.962T>C
ENST00000525102.5:n.1296T>C
ENST00000525372.5:n.539T>C
ENST00000526275.5:n.1320T>C
ENST00000526626.6:n.501T>C
ENST00000527992.5:n.766T>C
ENST00000529510.5:n.399+479T>C
ENST00000530407.5:n.688T>C
ENST00000532085.1:n.3149T>C
ENST00000532888.6:n.834T>C
ENST00000538950.5:c.319T>C	ENSP00000475991.2:p.Ser107Pro
ENST00000545985.5:c.538T>C	ENSP00000475241.2:p.Ser180Pro
NM_001164277.1:c.538T>C , LRG_187t1:c.538T>C	NP_001157749.1:p.Ser180Pro
NM_001164278.1:c.538T>C	NP_001157750.1:p.Ser180Pro
NM_001164279.1:c.319T>C	NP_001157751.1:p.Ser107Pro
NM_001164280.1:c.538T>C	NP_001157752.1:p.Ser180Pro
NM_001467.5:c.538T>C	NP_001458.1:p.Ser180Pro
NM_001164278.2:c.538T>C	NP_001157750.1:p.Ser180Pro
NM_001164279.2:c.319T>C	NP_001157751.1:p.Ser107Pro
NM_001164280.2:c.538T>C	NP_001157752.1:p.Ser180Pro
NM_001467.6:c.538T>C	NP_001458.1:p.Ser180Pro
NM_001164277.2:c.538T>C MANE Select	NP_001157749.1:p.Ser180Pro