Canonical Allele Identifier: CA379112398

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2191026C>A (hg19) ; chr11:g.2169796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169796C>A , CM000673.2:g.2169796C>A	GRCh38
NC_000011.9:g.2191026C>A , CM000673.1:g.2191026C>A	GRCh37
NC_000011.8:g.2147602C>A	NCBI36
NG_008128.1:g.7010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.166G>T MANE Select	ENSP00000325951.4:p.Ala56Ser
ENST00000324155.8:c.91-101G>T	ENSP00000325831.3:n.91-101G>T
ENST00000333684.9:c.166G>T	ENSP00000328814.6:p.Ala56Ser
ENST00000352909.7:c.166G>T	ENSP00000325951.3:p.Ala56Ser
ENST00000381168.7:c.103-101G>T	ENSP00000370560.3:n.103-101G>T
ENST00000381175.5:c.247G>T	ENSP00000370567.1:p.Ala83Ser
ENST00000381178.5:c.259G>T	ENSP00000370571.1:p.Ala87Ser
NM_000360.3:c.166G>T	NP_000351.2:p.Ala56Ser
NM_199292.2:c.259G>T	NP_954986.2:p.Ala87Ser
NM_199293.2:c.247G>T	NP_954987.2:p.Ala83Ser
XM_011520335.1:c.178G>T	XP_011518637.1:p.Ala60Ser
XM_011520335.2:c.178G>T	XP_011518637.1:p.Ala60Ser
NM_000360.4:c.166G>T MANE Select	NP_000351.2:p.Ala56Ser
NM_199292.3:c.259G>T	NP_954986.2:p.Ala87Ser
NM_199293.3:c.247G>T	NP_954987.2:p.Ala83Ser