Canonical Allele Identifier: CA421719755
Gene: SLC19A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.169454873G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169485635G>C , CM000663.2:g.169485635G>C GRCh38
NC_000001.10:g.169454873G>C , CM000663.1:g.169454873G>C GRCh37
NC_000001.9:g.167721497G>C NCBI36
NG_008255.1:g.5336C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236137.10:c.132C>G MANE Select ENSP00000236137.5:p.Ala44=
ENST00000646596.1:c.132C>G ENSP00000494404.1:p.Ala44=
ENST00000236137.9:c.132C>G ENSP00000236137.5:p.Ala44=
ENST00000367804.4:c.132C>G ENSP00000356778.3:p.Ala44=
NM_006996.2:c.132C>G NP_008927.1:p.Ala44=
XM_011509076.1:c.12+418C>G XP_011507378.1:n.12+418C>G
XM_011509077.1:c.132C>G XP_011507379.1:p.Ala44=
NM_001319667.1:c.132C>G NP_001306596.1:p.Ala44=
NM_006996.3:c.132C>G MANE Select NP_008927.1:p.Ala44=