Canonical Allele Identifier: CA5818774

Gene: TH

Linked Data

• dbSNP Id: rs758680742
• ExAC: 11:2191010 G / A
• gnomAD v2: 11-2191010-G-A
• gnomAD v3: 11-2169780-G-A
• gnomAD v4: 11-2169780-G-A
• COSMIC: COSM5037887
• MyVariant Identifiers: chr11:g.2191010G>A (hg19) ; chr11:g.2169780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169780G>A , CM000673.2:g.2169780G>A	GRCh38
NC_000011.9:g.2191010G>A , CM000673.1:g.2191010G>A	GRCh37
NC_000011.8:g.2147586G>A	NCBI36
NG_008128.1:g.7026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.182C>T MANE Select	ENSP00000325951.4:p.Pro61Leu
ENST00000324155.8:c.91-85C>T	ENSP00000325831.3:n.91-85C>T
ENST00000333684.9:c.182C>T	ENSP00000328814.6:p.Pro61Leu
ENST00000352909.7:c.182C>T	ENSP00000325951.3:p.Pro61Leu
ENST00000381168.7:c.103-85C>T	ENSP00000370560.3:n.103-85C>T
ENST00000381175.5:c.263C>T	ENSP00000370567.1:p.Pro88Leu
ENST00000381178.5:c.275C>T	ENSP00000370571.1:p.Pro92Leu
NM_000360.3:c.182C>T	NP_000351.2:p.Pro61Leu
NM_199292.2:c.275C>T	NP_954986.2:p.Pro92Leu
NM_199293.2:c.263C>T	NP_954987.2:p.Pro88Leu
XM_011520335.1:c.194C>T	XP_011518637.1:p.Pro65Leu
XM_011520335.2:c.194C>T	XP_011518637.1:p.Pro65Leu
NM_000360.4:c.182C>T MANE Select	NP_000351.2:p.Pro61Leu
NM_199292.3:c.275C>T	NP_954986.2:p.Pro92Leu
NM_199293.3:c.263C>T	NP_954987.2:p.Pro88Leu