Canonical Allele Identifier: CA5818734

Gene: TH

Linked Data

• dbSNP Id: rs746523338
• ExAC: 11:2190901 G / C
• gnomAD v2: 11-2190901-G-C
• MyVariant Identifiers: chr11:g.2190901G>C (hg19) ; chr11:g.2169671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169671G>C , CM000673.2:g.2169671G>C	GRCh38
NC_000011.9:g.2190901G>C , CM000673.1:g.2190901G>C	GRCh37
NC_000011.8:g.2147477G>C	NCBI36
NG_008128.1:g.7135C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.291C>G MANE Select	ENSP00000325951.4:p.Ser97=
ENST00000324155.8:c.115C>G	ENSP00000325831.3:p.Pro39Ala
ENST00000333684.9:c.291C>G	ENSP00000328814.6:p.Ser97=
ENST00000352909.7:c.291C>G	ENSP00000325951.3:p.Ser97=
ENST00000381168.7:c.127C>G	ENSP00000370560.3:p.Pro43Ala
ENST00000381175.5:c.372C>G	ENSP00000370567.1:p.Ser124=
ENST00000381178.5:c.384C>G	ENSP00000370571.1:p.Ser128=
NM_000360.3:c.291C>G	NP_000351.2:p.Ser97=
NM_199292.2:c.384C>G	NP_954986.2:p.Ser128=
NM_199293.2:c.372C>G	NP_954987.2:p.Ser124=
XM_011520335.1:c.303C>G	XP_011518637.1:p.Ser101=
XM_011520335.2:c.303C>G	XP_011518637.1:p.Ser101=
NM_000360.4:c.291C>G MANE Select	NP_000351.2:p.Ser97=
NM_199292.3:c.384C>G	NP_954986.2:p.Ser128=
NM_199293.3:c.372C>G	NP_954987.2:p.Ser124=