Canonical Allele Identifier: CA216282841

Gene: TH

Linked Data

• dbSNP Id: rs184106392
• gnomAD v4: 11-2165311-C-G
• MyVariant Identifiers: chr11:g.2186541C>G (hg19) ; chr11:g.2165311C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165311C>G , CM000673.2:g.2165311C>G	GRCh38
NC_000011.9:g.2186541C>G , CM000673.1:g.2186541C>G	GRCh37
NC_000011.8:g.2143117C>G	NCBI36
NG_007114.1:g.884G>C
NG_008128.1:g.11495G>C
NG_050578.1:g.899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1255G>C MANE Select	ENSP00000325951.4:p.Val419Leu
ENST00000324155.8:c.*944G>C	ENSP00000325831.3:n.*944G>C
ENST00000333684.9:c.973G>C	ENSP00000328814.6:p.Val325Leu
ENST00000352909.7:c.1255G>C	ENSP00000325951.3:p.Val419Leu
ENST00000381175.5:c.1336G>C	ENSP00000370567.1:p.Val446Leu
ENST00000381178.5:c.1348G>C	ENSP00000370571.1:p.Val450Leu
NM_000360.3:c.1255G>C	NP_000351.2:p.Val419Leu
NM_199292.2:c.1348G>C	NP_954986.2:p.Val450Leu
NM_199293.2:c.1336G>C	NP_954987.2:p.Val446Leu
XM_011520335.1:c.1267G>C	XP_011518637.1:p.Val423Leu
XM_011520335.2:c.1267G>C	XP_011518637.1:p.Val423Leu
NM_000360.4:c.1255G>C MANE Select	NP_000351.2:p.Val419Leu
NM_199292.3:c.1348G>C	NP_954986.2:p.Val450Leu
NM_199293.3:c.1336G>C	NP_954987.2:p.Val446Leu