Canonical Allele Identifier: CA472018841
Gene: TH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2190991G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169761G>C , CM000673.2:g.2169761G>C GRCh38
NC_000011.9:g.2190991G>C , CM000673.1:g.2190991G>C GRCh37
NC_000011.8:g.2147567G>C NCBI36
NG_008128.1:g.7045C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.201C>G MANE Select ENSP00000325951.4:p.Pro67=
ENST00000324155.8:c.91-66C>G ENSP00000325831.3:n.91-66C>G
ENST00000333684.9:c.201C>G ENSP00000328814.6:p.Pro67=
ENST00000352909.7:c.201C>G ENSP00000325951.3:p.Pro67=
ENST00000381168.7:c.103-66C>G ENSP00000370560.3:n.103-66C>G
ENST00000381175.5:c.282C>G ENSP00000370567.1:p.Pro94=
ENST00000381178.5:c.294C>G ENSP00000370571.1:p.Pro98=
NM_000360.3:c.201C>G NP_000351.2:p.Pro67=
NM_199292.2:c.294C>G NP_954986.2:p.Pro98=
NM_199293.2:c.282C>G NP_954987.2:p.Pro94=
XM_011520335.1:c.213C>G XP_011518637.1:p.Pro71=
XM_011520335.2:c.213C>G XP_011518637.1:p.Pro71=
NM_000360.4:c.201C>G MANE Select NP_000351.2:p.Pro67=
NM_199292.3:c.294C>G NP_954986.2:p.Pro98=
NM_199293.3:c.282C>G NP_954987.2:p.Pro94=