Canonical Allele Identifier: CA379126167

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187900T>G (hg19) ; chr11:g.2166670T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166670T>G , CM000673.2:g.2166670T>G	GRCh38
NC_000011.9:g.2187900T>G , CM000673.1:g.2187900T>G	GRCh37
NC_000011.8:g.2144476T>G	NCBI36
NG_008128.1:g.10136A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.940A>C MANE Select	ENSP00000325951.4:p.Ile314Leu
ENST00000324155.8:c.*629A>C	ENSP00000325831.3:n.*629A>C
ENST00000333684.9:c.696-121A>C	ENSP00000328814.6:n.696-121A>C
ENST00000352909.7:c.940A>C	ENSP00000325951.3:p.Ile314Leu
ENST00000381168.7:c.*660A>C	ENSP00000370560.3:n.*660A>C
ENST00000381175.5:c.1021A>C	ENSP00000370567.1:p.Ile341Leu
ENST00000381178.5:c.1033A>C	ENSP00000370571.1:p.Ile345Leu
ENST00000412076.1:c.136-121A>C
ENST00000416223.5:c.234A>C
ENST00000461172.1:n.105A>C
ENST00000479437.5:n.489A>C
NM_000360.3:c.940A>C	NP_000351.2:p.Ile314Leu
NM_199292.2:c.1033A>C	NP_954986.2:p.Ile345Leu
NM_199293.2:c.1021A>C	NP_954987.2:p.Ile341Leu
XM_011520335.1:c.952A>C	XP_011518637.1:p.Ile318Leu
XM_011520335.2:c.952A>C	XP_011518637.1:p.Ile318Leu
NM_000360.4:c.940A>C MANE Select	NP_000351.2:p.Ile314Leu
NM_199292.3:c.1033A>C	NP_954986.2:p.Ile345Leu
NM_199293.3:c.1021A>C	NP_954987.2:p.Ile341Leu