Canonical Allele Identifier: CA8458370

Gene: SLC46A1

Linked Data

• dbSNP Id: rs181017052
• ExAC: 17:26732863 A / C
• gnomAD v2: 17-26732863-A-C
• gnomAD v3: 17-28405845-A-C
• gnomAD v4: 17-28405845-A-C
• MyVariant Identifiers: chr17:g.26732863A>C (hg19) ; chr17:g.28405845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405845A>C , CM000679.2:g.28405845A>C	GRCh38
NC_000017.10:g.26732863A>C , CM000679.1:g.26732863A>C	GRCh37
NC_000017.9:g.23756990A>C	NCBI36
NG_013306.1:g.5366T>G , LRG_183:g.5366T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000612814.5:c.228+42T>G MANE Select	ENSP00000480703.1:n.228+42T>G
ENST00000581516.1:c.6+42T>G	ENSP00000462942.1:n.6+42T>G
ENST00000582590.1:n.282+42T>G
ENST00000584426.1:c.-36-377T>G	ENSP00000467416.1:n.-36-377T>G
ENST00000584995.5:c.6+42T>G	ENSP00000464190.1:n.6+42T>G
ENST00000612814.4:c.228+42T>G	ENSP00000480703.1:n.228+42T>G
ENST00000618626.1:c.228+42T>G	ENSP00000483652.1:n.228+42T>G
NM_001242366.2:c.228+42T>G	NP_001229295.1:n.228+42T>G
NM_080669.5:c.228+42T>G	NP_542400.2:n.228+42T>G
XM_005277786.2:c.228+42T>G	XP_005277843.1:n.228+42T>G
XR_934643.1:n.89+394A>C
XM_005277786.3:c.228+42T>G	XP_005277843.1:n.228+42T>G
XM_017024110.1:c.6+42T>G	XP_016879599.1:n.6+42T>G
NM_080669.6:c.228+42T>G MANE Select	NP_542400.2:n.228+42T>G
NM_001242366.3:c.228+42T>G	NP_001229295.1:n.228+42T>G