Canonical Allele Identifier: CA379126235

Gene: TH

Linked Data

• gnomAD v4: 11-2166700-C-A
• MyVariant Identifiers: chr11:g.2187930C>A (hg19) ; chr11:g.2166700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166700C>A , CM000673.2:g.2166700C>A	GRCh38
NC_000011.9:g.2187930C>A , CM000673.1:g.2187930C>A	GRCh37
NC_000011.8:g.2144506C>A	NCBI36
NG_008128.1:g.10106G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.910G>T MANE Select	ENSP00000325951.4:p.Ala304Ser
ENST00000324155.8:c.*599G>T	ENSP00000325831.3:n.*599G>T
ENST00000333684.9:c.696-151G>T	ENSP00000328814.6:n.696-151G>T
ENST00000352909.7:c.910G>T	ENSP00000325951.3:p.Ala304Ser
ENST00000381168.7:c.*630G>T	ENSP00000370560.3:n.*630G>T
ENST00000381175.5:c.991G>T	ENSP00000370567.1:p.Ala331Ser
ENST00000381178.5:c.1003G>T	ENSP00000370571.1:p.Ala335Ser
ENST00000412076.1:c.136-151G>T
ENST00000416223.5:c.204G>T
ENST00000461172.1:n.75G>T
ENST00000479437.5:n.459G>T
NM_000360.3:c.910G>T	NP_000351.2:p.Ala304Ser
NM_199292.2:c.1003G>T	NP_954986.2:p.Ala335Ser
NM_199293.2:c.991G>T	NP_954987.2:p.Ala331Ser
XM_011520335.1:c.922G>T	XP_011518637.1:p.Ala308Ser
XM_011520335.2:c.922G>T	XP_011518637.1:p.Ala308Ser
NM_000360.4:c.910G>T MANE Select	NP_000351.2:p.Ala304Ser
NM_199292.3:c.1003G>T	NP_954986.2:p.Ala335Ser
NM_199293.3:c.991G>T	NP_954987.2:p.Ala331Ser