Canonical Allele Identifier: CA379112731

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2192916T>A (hg19) ; chr11:g.2171686T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171686T>A , CM000673.2:g.2171686T>A	GRCh38
NC_000011.9:g.2192916T>A , CM000673.1:g.2192916T>A	GRCh37
NC_000011.8:g.2149492T>A	NCBI36
NG_008128.1:g.5120A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.90+11A>T MANE Select	ENSP00000325951.4:n.90+11A>T
ENST00000324155.8:c.90+11A>T	ENSP00000325831.3:n.90+11A>T
ENST00000333684.9:c.90+11A>T	ENSP00000328814.6:n.90+11A>T
ENST00000352909.7:c.90+11A>T	ENSP00000325951.3:n.90+11A>T
ENST00000381168.7:c.101A>T	ENSP00000370560.3:p.Gln34Leu
ENST00000381175.5:c.90+11A>T	ENSP00000370567.1:n.90+11A>T
ENST00000381178.5:c.101A>T	ENSP00000370571.1:p.Gln34Leu
NM_000360.3:c.90+11A>T	NP_000351.2:n.90+11A>T
NM_199292.2:c.101A>T	NP_954986.2:p.Gln34Leu
NM_199293.2:c.90+11A>T	NP_954987.2:n.90+11A>T
XM_011520335.1:c.101A>T	XP_011518637.1:p.Gln34Leu
XM_011520335.2:c.101A>T	XP_011518637.1:p.Gln34Leu
NM_000360.4:c.90+11A>T MANE Select	NP_000351.2:n.90+11A>T
NM_199292.3:c.101A>T	NP_954986.2:p.Gln34Leu
NM_199293.3:c.90+11A>T	NP_954987.2:n.90+11A>T