Canonical Allele Identifier: CA727744414

Gene: SLC46A1

Linked Data

• dbSNP Id: rs1258763417
• gnomAD v3: 17-28405841-C-G
• gnomAD v4: 17-28405841-C-G
• MyVariant Identifiers: chr17:g.28405841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405841C>G , CM000679.2:g.28405841C>G	GRCh38
NC_000017.10:g.26732859C>G , CM000679.1:g.26732859C>G	GRCh37
NC_000017.9:g.23756986C>G	NCBI36
NG_013306.1:g.5370G>C , LRG_183:g.5370G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000612814.5:c.228+46G>C MANE Select	ENSP00000480703.1:n.228+46G>C
ENST00000581516.1:c.6+46G>C	ENSP00000462942.1:n.6+46G>C
ENST00000582590.1:n.282+46G>C
ENST00000584426.1:c.-36-373G>C	ENSP00000467416.1:n.-36-373G>C
ENST00000584995.5:c.6+46G>C	ENSP00000464190.1:n.6+46G>C
ENST00000612814.4:c.228+46G>C	ENSP00000480703.1:n.228+46G>C
ENST00000618626.1:c.228+46G>C	ENSP00000483652.1:n.228+46G>C
NM_001242366.2:c.228+46G>C	NP_001229295.1:n.228+46G>C
NM_080669.5:c.228+46G>C	NP_542400.2:n.228+46G>C
XM_005277786.2:c.228+46G>C	XP_005277843.1:n.228+46G>C
XR_934643.1:n.89+390C>G
XM_005277786.3:c.228+46G>C	XP_005277843.1:n.228+46G>C
XM_017024110.1:c.6+46G>C	XP_016879599.1:n.6+46G>C
NM_080669.6:c.228+46G>C MANE Select	NP_542400.2:n.228+46G>C
NM_001242366.3:c.228+46G>C	NP_001229295.1:n.228+46G>C