Canonical Allele Identifier: CA379112540

Gene: TH

Linked Data

• gnomAD v4: 11-2169862-A-G
• MyVariant Identifiers: chr11:g.2191092A>G (hg19) ; chr11:g.2169862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169862A>G , CM000673.2:g.2169862A>G	GRCh38
NC_000011.9:g.2191092A>G , CM000673.1:g.2191092A>G	GRCh37
NC_000011.8:g.2147668A>G	NCBI36
NG_008128.1:g.6944T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.100T>C MANE Select	ENSP00000325951.4:p.Phe34Leu
ENST00000324155.8:c.91-167T>C	ENSP00000325831.3:n.91-167T>C
ENST00000333684.9:c.100T>C	ENSP00000328814.6:p.Phe34Leu
ENST00000352909.7:c.100T>C	ENSP00000325951.3:p.Phe34Leu
ENST00000381168.7:c.103-167T>C	ENSP00000370560.3:n.103-167T>C
ENST00000381175.5:c.181T>C	ENSP00000370567.1:p.Phe61Leu
ENST00000381178.5:c.193T>C	ENSP00000370571.1:p.Phe65Leu
NM_000360.3:c.100T>C	NP_000351.2:p.Phe34Leu
NM_199292.2:c.193T>C	NP_954986.2:p.Phe65Leu
NM_199293.2:c.181T>C	NP_954987.2:p.Phe61Leu
XM_011520335.1:c.112T>C	XP_011518637.1:p.Phe38Leu
XM_011520335.2:c.112T>C	XP_011518637.1:p.Phe38Leu
NM_000360.4:c.100T>C MANE Select	NP_000351.2:p.Phe34Leu
NM_199292.3:c.193T>C	NP_954986.2:p.Phe65Leu
NM_199293.3:c.181T>C	NP_954987.2:p.Phe61Leu