Canonical Allele Identifier: CA343112153
Gene: SLC19A2 HGNC NCBI

Linked Data

gnomAD v4: 1-169485604-G-T
MyVariant Identifiers: chr1:g.169454842G>T (hg19) chr1:g.169485604G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485604G>T , CM000663.2:g.169485604G>T GRCh38
NC_000001.10:g.169454842G>T , CM000663.1:g.169454842G>T GRCh37
NC_000001.9:g.167721466G>T NCBI36
NG_008255.1:g.5367C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.163C>A MANE Select ENSP00000236137.5:p.Pro55Thr
ENST00000646596.1:c.163C>A ENSP00000494404.1:p.Pro55Thr
ENST00000236137.9:c.163C>A ENSP00000236137.5:p.Pro55Thr
ENST00000367804.4:c.163C>A ENSP00000356778.3:p.Pro55Thr
NM_006996.2:c.163C>A NP_008927.1:p.Pro55Thr
XM_011509076.1:c.12+449C>A XP_011507378.1:n.12+449C>A
XM_011509077.1:c.163C>A XP_011507379.1:p.Pro55Thr
NM_001319667.1:c.163C>A NP_001306596.1:p.Pro55Thr
NM_006996.3:c.163C>A MANE Select NP_008927.1:p.Pro55Thr
Search 100 bp 5'
Search 100 bp 3'