Canonical Allele Identifier: CA625774772

Gene: SLC46A1

Linked Data

• dbSNP Id: rs1361281780
• gnomAD v2: 17-26732855-C-A
• gnomAD v3: 17-28405837-C-A
• gnomAD v4: 17-28405837-C-A
• MyVariant Identifiers: chr17:g.26732855C>A (hg19) ; chr17:g.28405837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405837C>A , CM000679.2:g.28405837C>A	GRCh38
NC_000017.10:g.26732855C>A , CM000679.1:g.26732855C>A	GRCh37
NC_000017.9:g.23756982C>A	NCBI36
NG_013306.1:g.5374G>T , LRG_183:g.5374G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000612814.5:c.228+50G>T MANE Select	ENSP00000480703.1:n.228+50G>T
ENST00000581516.1:c.6+50G>T	ENSP00000462942.1:n.6+50G>T
ENST00000582590.1:n.282+50G>T
ENST00000584426.1:c.-36-369G>T	ENSP00000467416.1:n.-36-369G>T
ENST00000584995.5:c.6+50G>T	ENSP00000464190.1:n.6+50G>T
ENST00000612814.4:c.228+50G>T	ENSP00000480703.1:n.228+50G>T
ENST00000618626.1:c.228+50G>T	ENSP00000483652.1:n.228+50G>T
NM_001242366.2:c.228+50G>T	NP_001229295.1:n.228+50G>T
NM_080669.5:c.228+50G>T	NP_542400.2:n.228+50G>T
XM_005277786.2:c.228+50G>T	XP_005277843.1:n.228+50G>T
XR_934643.1:n.89+386C>A
XM_005277786.3:c.228+50G>T	XP_005277843.1:n.228+50G>T
XM_017024110.1:c.6+50G>T	XP_016879599.1:n.6+50G>T
NM_080669.6:c.228+50G>T MANE Select	NP_542400.2:n.228+50G>T
NM_001242366.3:c.228+50G>T	NP_001229295.1:n.228+50G>T