Canonical Allele Identifier: CA477125921

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027060-G-A
• MyVariant Identifiers: chr11:g.118897770G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027060G>A , CM000673.2:g.119027060G>A	GRCh38
NC_000011.9:g.118897770G>A , CM000673.1:g.118897770G>A	GRCh37
NC_000011.8:g.118402980G>A	NCBI36
NG_013331.1:g.8846C>T , LRG_187:g.8846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.891C>T
ENST00000697845.1:n.815C>T
ENST00000697846.1:n.891C>T
ENST00000697847.1:n.891C>T
ENST00000697848.1:n.891C>T
ENST00000697849.1:n.1930C>T
ENST00000697850.1:n.891C>T
ENST00000697851.1:n.2251C>T
ENST00000638186.1:n.965C>T
ENST00000638360.1:n.797C>T
ENST00000638925.1:n.898C>T
ENST00000650539.1:n.1067C>T
ENST00000330775.9:c.661C>T	ENSP00000476242.2:p.Leu221=
ENST00000357590.9:c.661C>T	ENSP00000476176.2:p.Leu221=
ENST00000524428.5:n.983C>T
ENST00000525039.5:n.1085C>T
ENST00000525102.5:n.1419C>T
ENST00000525372.5:n.662C>T
ENST00000526275.5:n.1443C>T
ENST00000526626.6:n.624C>T
ENST00000527992.5:n.889C>T
ENST00000529510.5:n.435C>T
ENST00000530407.5:n.811C>T
ENST00000532085.1:n.3272C>T
ENST00000532888.6:n.957C>T
ENST00000538950.5:c.442C>T	ENSP00000475991.2:p.Leu148=
ENST00000545985.5:c.661C>T	ENSP00000475241.2:p.Leu221=
NM_001164277.1:c.661C>T , LRG_187t1:c.661C>T	NP_001157749.1:p.Leu221=
NM_001164278.1:c.661C>T	NP_001157750.1:p.Leu221=
NM_001164279.1:c.442C>T	NP_001157751.1:p.Leu148=
NM_001164280.1:c.661C>T	NP_001157752.1:p.Leu221=
NM_001467.5:c.661C>T	NP_001458.1:p.Leu221=
NM_001164278.2:c.661C>T	NP_001157750.1:p.Leu221=
NM_001164279.2:c.442C>T	NP_001157751.1:p.Leu148=
NM_001164280.2:c.661C>T	NP_001157752.1:p.Leu221=
NM_001467.6:c.661C>T	NP_001458.1:p.Leu221=
NM_001164277.2:c.661C>T MANE Select	NP_001157749.1:p.Leu221=