Canonical Allele Identifier: CA379124868

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186473C>A (hg19) ; chr11:g.2165243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165243C>A , CM000673.2:g.2165243C>A	GRCh38
NC_000011.9:g.2186473C>A , CM000673.1:g.2186473C>A	GRCh37
NC_000011.8:g.2143049C>A	NCBI36
NG_007114.1:g.952G>T
NG_008128.1:g.11563G>T
NG_050578.1:g.967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1323G>T MANE Select	ENSP00000325951.4:p.Lys441Asn
ENST00000333684.9:c.1041G>T	ENSP00000328814.6:p.Lys347Asn
ENST00000352909.7:c.1323G>T	ENSP00000325951.3:p.Lys441Asn
ENST00000381175.5:c.1404G>T	ENSP00000370567.1:p.Lys468Asn
ENST00000381178.5:c.1416G>T	ENSP00000370571.1:p.Lys472Asn
NM_000360.3:c.1323G>T	NP_000351.2:p.Lys441Asn
NM_199292.2:c.1416G>T	NP_954986.2:p.Lys472Asn
NM_199293.2:c.1404G>T	NP_954987.2:p.Lys468Asn
XM_011520335.1:c.1335G>T	XP_011518637.1:p.Lys445Asn
XM_011520335.2:c.1335G>T	XP_011518637.1:p.Lys445Asn
NM_000360.4:c.1323G>T MANE Select	NP_000351.2:p.Lys441Asn
NM_199292.3:c.1416G>T	NP_954986.2:p.Lys472Asn
NM_199293.3:c.1404G>T	NP_954987.2:p.Lys468Asn