Canonical Allele Identifier: CA674605931

Gene: TH

Linked Data

• dbSNP Id: rs1305700028
• MyVariant Identifiers: chr11:g.2187587G>A (hg19) ; chr11:g.2166357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166357G>A , CM000673.2:g.2166357G>A	GRCh38
NC_000011.9:g.2187587G>A , CM000673.1:g.2187587G>A	GRCh37
NC_000011.8:g.2144163G>A	NCBI36
NG_008128.1:g.10449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1047+123C>T MANE Select	ENSP00000325951.4:n.1047+123C>T
ENST00000324155.8:c.*736+123C>T	ENSP00000325831.3:n.*736+123C>T
ENST00000333684.9:c.765+123C>T	ENSP00000328814.6:n.765+123C>T
ENST00000352909.7:c.1047+123C>T	ENSP00000325951.3:n.1047+123C>T
ENST00000381168.7:c.*767+123C>T	ENSP00000370560.3:n.*767+123C>T
ENST00000381175.5:c.1128+123C>T	ENSP00000370567.1:n.1128+123C>T
ENST00000381178.5:c.1140+123C>T	ENSP00000370571.1:n.1140+123C>T
ENST00000412076.1:c.205+123C>T
ENST00000416223.5:c.341+123C>T
ENST00000461172.1:n.335C>T
ENST00000479437.5:n.596+123C>T
NM_000360.3:c.1047+123C>T	NP_000351.2:n.1047+123C>T
NM_199292.2:c.1140+123C>T	NP_954986.2:n.1140+123C>T
NM_199293.2:c.1128+123C>T	NP_954987.2:n.1128+123C>T
XM_011520335.1:c.1059+123C>T	XP_011518637.1:n.1059+123C>T
XM_011520335.2:c.1059+123C>T	XP_011518637.1:n.1059+123C>T
NM_000360.4:c.1047+123C>T MANE Select	NP_000351.2:n.1047+123C>T
NM_199292.3:c.1140+123C>T	NP_954986.2:n.1140+123C>T
NM_199293.3:c.1128+123C>T	NP_954987.2:n.1128+123C>T