Canonical Allele Identifier: CA2611971256

Gene: TH

Linked Data

• gnomAD v4: 11-2165121-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165121C>G , CM000673.2:g.2165121C>G	GRCh38
NC_000011.9:g.2186351C>G , CM000673.1:g.2186351C>G	GRCh37
NC_000011.8:g.2142927C>G	NCBI36
NG_007114.1:g.1074G>C
NG_008128.1:g.11685G>C
NG_050578.1:g.1089G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1334+111G>C MANE Select	ENSP00000325951.4:n.1334+111G>C
ENST00000333684.9:c.1052+111G>C	ENSP00000328814.6:n.1052+111G>C
ENST00000352909.7:c.1334+111G>C	ENSP00000325951.3:n.1334+111G>C
ENST00000381175.5:c.1415+111G>C	ENSP00000370567.1:n.1415+111G>C
ENST00000381178.5:c.1427+111G>C	ENSP00000370571.1:n.1427+111G>C
NM_000360.3:c.1334+111G>C	NP_000351.2:n.1334+111G>C
NM_199292.2:c.1427+111G>C	NP_954986.2:n.1427+111G>C
NM_199293.2:c.1415+111G>C	NP_954987.2:n.1415+111G>C
XM_011520335.1:c.1346+111G>C	XP_011518637.1:n.1346+111G>C
XM_011520335.2:c.1346+111G>C	XP_011518637.1:n.1346+111G>C
NM_000360.4:c.1334+111G>C MANE Select	NP_000351.2:n.1334+111G>C
NM_199292.3:c.1427+111G>C	NP_954986.2:n.1427+111G>C
NM_199293.3:c.1415+111G>C	NP_954987.2:n.1415+111G>C