Canonical Allele Identifier: CA379125192

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186550C>G (hg19) ; chr11:g.2165320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165320C>G , CM000673.2:g.2165320C>G	GRCh38
NC_000011.9:g.2186550C>G , CM000673.1:g.2186550C>G	GRCh37
NC_000011.8:g.2143126C>G	NCBI36
NG_007114.1:g.875G>C
NG_008128.1:g.11486G>C
NG_050578.1:g.890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1246G>C MANE Select	ENSP00000325951.4:p.Ala416Pro
ENST00000324155.8:c.*935G>C	ENSP00000325831.3:n.*935G>C
ENST00000333684.9:c.964G>C	ENSP00000328814.6:p.Ala322Pro
ENST00000352909.7:c.1246G>C	ENSP00000325951.3:p.Ala416Pro
ENST00000381175.5:c.1327G>C	ENSP00000370567.1:p.Ala443Pro
ENST00000381178.5:c.1339G>C	ENSP00000370571.1:p.Ala447Pro
NM_000360.3:c.1246G>C	NP_000351.2:p.Ala416Pro
NM_199292.2:c.1339G>C	NP_954986.2:p.Ala447Pro
NM_199293.2:c.1327G>C	NP_954987.2:p.Ala443Pro
XM_011520335.1:c.1258G>C	XP_011518637.1:p.Ala420Pro
XM_011520335.2:c.1258G>C	XP_011518637.1:p.Ala420Pro
NM_000360.4:c.1246G>C MANE Select	NP_000351.2:p.Ala416Pro
NM_199292.3:c.1339G>C	NP_954986.2:p.Ala447Pro
NM_199293.3:c.1327G>C	NP_954987.2:p.Ala443Pro