Canonical Allele Identifier: CA942772462

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1943537815
• gnomAD v3: 11-119025556-G-A
• gnomAD v4: 11-119025556-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025556G>A , CM000673.2:g.119025556G>A	GRCh38
NC_000011.9:g.118896266G>A , CM000673.1:g.118896266G>A	GRCh37
NC_000011.8:g.118401476G>A	NCBI36
NG_013331.1:g.10350C>T , LRG_187:g.10350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1194+136C>T
ENST00000697845.1:n.2183+136C>T
ENST00000697846.1:n.1330C>T
ENST00000697847.1:n.1267+136C>T
ENST00000697848.1:n.1416C>T
ENST00000697849.1:n.3434C>T
ENST00000697850.1:n.1625C>T
ENST00000697851.1:n.2823-227C>T
ENST00000638186.1:n.1289-227C>T
ENST00000638360.1:n.1121-227C>T
ENST00000638925.1:n.1254-227C>T
ENST00000650539.1:n.1456+136C>T
ENST00000330775.9:c.985-227C>T	ENSP00000476242.2:n.985-227C>T
ENST00000357590.9:c.1050+136C>T	ENSP00000476176.2:n.1050+136C>T
ENST00000524428.5:n.1221-227C>T
ENST00000525039.5:n.1474+136C>T
ENST00000525102.5:n.1743-227C>T
ENST00000525372.5:n.1083-227C>T
ENST00000526275.5:n.1767-227C>T
ENST00000527992.5:n.1213-227C>T
ENST00000529510.5:n.673-227C>T
ENST00000530407.5:n.1135-227C>T
ENST00000532085.1:n.4776C>T
ENST00000538950.5:c.766-227C>T	ENSP00000475991.2:n.766-227C>T
ENST00000545985.5:c.985-227C>T	ENSP00000475241.2:n.985-227C>T
NM_001164277.1:c.985-227C>T , LRG_187t1:c.985-227C>T	NP_001157749.1:n.985-227C>T
NM_001164278.1:c.1050+136C>T	NP_001157750.1:n.1050+136C>T
NM_001164279.1:c.766-227C>T	NP_001157751.1:n.766-227C>T
NM_001164280.1:c.985-227C>T	NP_001157752.1:n.985-227C>T
NM_001467.5:c.985-227C>T	NP_001458.1:n.985-227C>T
NM_001164278.2:c.1050+136C>T	NP_001157750.1:n.1050+136C>T
NM_001164279.2:c.766-227C>T	NP_001157751.1:n.766-227C>T
NM_001164280.2:c.985-227C>T	NP_001157752.1:n.985-227C>T
NM_001467.6:c.985-227C>T	NP_001458.1:n.985-227C>T
NM_001164277.2:c.985-227C>T MANE Select	NP_001157749.1:n.985-227C>T