Canonical Allele Identifier: CA14748420

Gene: SLC23A2

Linked Data

• dbSNP Id: rs6139591
• gnomAD v2: 20-4951359-G-A
• gnomAD v3: 20-4970713-G-A
• gnomAD v4: 20-4970713-G-A
• MyVariant Identifiers: chr20:g.4951359G>A (hg19) ; chr20:g.4970713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.4970713G>A , CM000682.2:g.4970713G>A	GRCh38
NC_000020.10:g.4951359G>A , CM000682.1:g.4951359G>A	GRCh37
NC_000020.9:g.4899359G>A	NCBI36
NG_029959.1:g.35787C>T
NG_029959.2:g.44581C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338244.6:c.-155+80C>T MANE Select	ENSP00000344322.1:n.-155+80C>T
ENST00000338244.5:c.-155+80C>T	ENSP00000344322.1:n.-155+80C>T
ENST00000379333.5:c.-155+80C>T	ENSP00000368637.1:n.-155+80C>T
ENST00000468355.5:n.212+80C>T
NM_005116.5:c.-155+80C>T	NP_005107.4:n.-155+80C>T
NM_203327.1:c.-155+80C>T	NP_976072.1:n.-155+80C>T
XM_011529414.1:c.-155+80C>T	XP_011527716.1:n.-155+80C>T
XM_011529417.1:c.-155+30693C>T	XP_011527719.1:n.-155+30693C>T
NM_005116.6:c.-155+80C>T MANE Select	NP_005107.4:n.-155+80C>T
NM_203327.2:c.-155+80C>T	NP_976072.1:n.-155+80C>T