Canonical Allele Identifier: CA1233090
Community Standard Title: NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly)
Gene: SLC19A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169477643T>C , CM000663.2:g.169477643T>C GRCh38
NC_000001.10:g.169446881T>C , CM000663.1:g.169446881T>C GRCh37
NC_000001.9:g.167713505T>C NCBI36
NG_008255.1:g.13328A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006996.3:c.319A>G MANE Select NP_008927.1:p.Ser107Gly
ENST00000236137.10:c.319A>G MANE Select ENSP00000236137.5:p.Ser107Gly
NM_001319667.1:c.205-7457A>G NP_001306596.1:n.205-7457A>G
NM_006996.2:c.319A>G NP_008927.1:p.Ser107Gly
ENST00000236137.9:c.319A>G ENSP00000236137.5:p.Ser107Gly
ENST00000367804.4:c.205-7457A>G ENSP00000356778.3:n.205-7457A>G
ENST00000646596.1:c.319A>G ENSP00000494404.1:p.Ser107Gly
XM_011509076.1:c.127A>G XP_011507378.1:p.Ser43Gly
XM_011509077.1:c.205-7457A>G XP_011507379.1:n.205-7457A>G