Canonical Allele Identifier: CA379125929

Gene: TH

Linked Data

• gnomAD v4: 11-2166484-G-A
• MyVariant Identifiers: chr11:g.2187714G>A (hg19) ; chr11:g.2166484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166484G>A , CM000673.2:g.2166484G>A	GRCh38
NC_000011.9:g.2187714G>A , CM000673.1:g.2187714G>A	GRCh37
NC_000011.8:g.2144290G>A	NCBI36
NG_008128.1:g.10322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1043C>T MANE Select	ENSP00000325951.4:p.Ser348Leu
ENST00000324155.8:c.*732C>T	ENSP00000325831.3:n.*732C>T
ENST00000333684.9:c.761C>T	ENSP00000328814.6:p.Ser254Leu
ENST00000352909.7:c.1043C>T	ENSP00000325951.3:p.Ser348Leu
ENST00000381168.7:c.*763C>T	ENSP00000370560.3:n.*763C>T
ENST00000381175.5:c.1124C>T	ENSP00000370567.1:p.Ser375Leu
ENST00000381178.5:c.1136C>T	ENSP00000370571.1:p.Ser379Leu
ENST00000412076.1:c.201C>T
ENST00000416223.5:c.337C>T
ENST00000461172.1:n.208C>T
ENST00000479437.5:n.592C>T
NM_000360.3:c.1043C>T	NP_000351.2:p.Ser348Leu
NM_199292.2:c.1136C>T	NP_954986.2:p.Ser379Leu
NM_199293.2:c.1124C>T	NP_954987.2:p.Ser375Leu
XM_011520335.1:c.1055C>T	XP_011518637.1:p.Ser352Leu
XM_011520335.2:c.1055C>T	XP_011518637.1:p.Ser352Leu
NM_000360.4:c.1043C>T MANE Select	NP_000351.2:p.Ser348Leu
NM_199292.3:c.1136C>T	NP_954986.2:p.Ser379Leu
NM_199293.3:c.1124C>T	NP_954987.2:p.Ser375Leu