Canonical Allele Identifier: CA1126200772

Gene: SLC28A3

Linked Data

• dbSNP Id: rs2118360574
• gnomAD v3: 9-84307037-C-A
• gnomAD v4: 9-84307037-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.84307037C>A , CM000671.2:g.84307037C>A	GRCh38
NC_000009.11:g.86921952C>A , CM000671.1:g.86921952C>A	GRCh37
NC_000009.10:g.86111772C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376238.5:c.243-1692G>T MANE Select	ENSP00000365413.4:n.243-1692G>T
ENST00000376238.4:c.243-1692G>T	ENSP00000365413.4:n.243-1692G>T
ENST00000495823.1:n.445-1692G>T
NM_001199633.1:c.243-1692G>T	NP_001186562.1:n.243-1692G>T
NM_022127.2:c.243-1692G>T	NP_071410.1:n.243-1692G>T
NR_037638.2:n.565-1692G>T
XM_011518905.1:c.418+2592G>T	XP_011517207.1:n.418+2592G>T
XM_011518906.1:c.418+2592G>T	XP_011517208.1:n.418+2592G>T
XM_011518907.1:c.85+2592G>T	XP_011517209.1:n.85+2592G>T
XM_011518909.1:c.418+2592G>T	XP_011517211.1:n.418+2592G>T
XM_011518910.1:c.418+2592G>T	XP_011517212.1:n.418+2592G>T
XR_929832.1:n.545+2592G>T
XM_011518905.2:c.418+2592G>T	XP_011517207.1:n.418+2592G>T
XM_011518906.2:c.418+2592G>T	XP_011517208.1:n.418+2592G>T
XM_011518907.2:c.85+2592G>T	XP_011517209.1:n.85+2592G>T
XM_011518909.2:c.418+2592G>T	XP_011517211.1:n.418+2592G>T
XM_011518910.2:c.418+2592G>T	XP_011517212.1:n.418+2592G>T
XR_929832.2:n.550+2592G>T
NM_001199633.2:c.243-1692G>T MANE Select	NP_001186562.1:n.243-1692G>T
NM_022127.3:c.243-1692G>T	NP_071410.1:n.243-1692G>T
NR_037638.3:n.544-1692G>T