Canonical Allele Identifier: CA12990678

Gene: SLC28A3

Linked Data

• dbSNP Id: rs12237803
• gnomAD v2: 9-86921993-C-T
• gnomAD v3: 9-84307078-C-T
• gnomAD v4: 9-84307078-C-T
• MyVariant Identifiers: chr9:g.86921993C>T (hg19) ; chr9:g.84307078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.84307078C>T , CM000671.2:g.84307078C>T	GRCh38
NC_000009.11:g.86921993C>T , CM000671.1:g.86921993C>T	GRCh37
NC_000009.10:g.86111813C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376238.5:c.243-1733G>A MANE Select	ENSP00000365413.4:n.243-1733G>A
ENST00000376238.4:c.243-1733G>A	ENSP00000365413.4:n.243-1733G>A
ENST00000495823.1:n.445-1733G>A
NM_001199633.1:c.243-1733G>A	NP_001186562.1:n.243-1733G>A
NM_022127.2:c.243-1733G>A	NP_071410.1:n.243-1733G>A
NR_037638.2:n.565-1733G>A
XM_011518905.1:c.418+2551G>A	XP_011517207.1:n.418+2551G>A
XM_011518906.1:c.418+2551G>A	XP_011517208.1:n.418+2551G>A
XM_011518907.1:c.85+2551G>A	XP_011517209.1:n.85+2551G>A
XM_011518909.1:c.418+2551G>A	XP_011517211.1:n.418+2551G>A
XM_011518910.1:c.418+2551G>A	XP_011517212.1:n.418+2551G>A
XR_929832.1:n.545+2551G>A
XM_011518905.2:c.418+2551G>A	XP_011517207.1:n.418+2551G>A
XM_011518906.2:c.418+2551G>A	XP_011517208.1:n.418+2551G>A
XM_011518907.2:c.85+2551G>A	XP_011517209.1:n.85+2551G>A
XM_011518909.2:c.418+2551G>A	XP_011517211.1:n.418+2551G>A
XM_011518910.2:c.418+2551G>A	XP_011517212.1:n.418+2551G>A
XR_929832.2:n.550+2551G>A
NM_001199633.2:c.243-1733G>A MANE Select	NP_001186562.1:n.243-1733G>A
NM_022127.3:c.243-1733G>A	NP_071410.1:n.243-1733G>A
NR_037638.3:n.544-1733G>A