Canonical Allele Identifier: CA379126216

Gene: TH

Linked Data

• gnomAD v4: 11-2166691-C-G
• MyVariant Identifiers: chr11:g.2187921C>G (hg19) ; chr11:g.2166691C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166691C>G , CM000673.2:g.2166691C>G	GRCh38
NC_000011.9:g.2187921C>G , CM000673.1:g.2187921C>G	GRCh37
NC_000011.8:g.2144497C>G	NCBI36
NG_008128.1:g.10115G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.919G>C MANE Select	ENSP00000325951.4:p.Val307Leu
ENST00000324155.8:c.*608G>C	ENSP00000325831.3:n.*608G>C
ENST00000333684.9:c.696-142G>C	ENSP00000328814.6:n.696-142G>C
ENST00000352909.7:c.919G>C	ENSP00000325951.3:p.Val307Leu
ENST00000381168.7:c.*639G>C	ENSP00000370560.3:n.*639G>C
ENST00000381175.5:c.1000G>C	ENSP00000370567.1:p.Val334Leu
ENST00000381178.5:c.1012G>C	ENSP00000370571.1:p.Val338Leu
ENST00000412076.1:c.136-142G>C
ENST00000416223.5:c.213G>C
ENST00000461172.1:n.84G>C
ENST00000479437.5:n.468G>C
NM_000360.3:c.919G>C	NP_000351.2:p.Val307Leu
NM_199292.2:c.1012G>C	NP_954986.2:p.Val338Leu
NM_199293.2:c.1000G>C	NP_954987.2:p.Val334Leu
XM_011520335.1:c.931G>C	XP_011518637.1:p.Val311Leu
XM_011520335.2:c.931G>C	XP_011518637.1:p.Val311Leu
NM_000360.4:c.919G>C MANE Select	NP_000351.2:p.Val307Leu
NM_199292.3:c.1012G>C	NP_954986.2:p.Val338Leu
NM_199293.3:c.1000G>C	NP_954987.2:p.Val334Leu