Canonical Allele Identifier: CA379127540

Gene: TH

Linked Data

• gnomAD v4: 11-2167487-T-A
• MyVariant Identifiers: chr11:g.2188717T>A (hg19) ; chr11:g.2167487T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167487T>A , CM000673.2:g.2167487T>A	GRCh38
NC_000011.9:g.2188717T>A , CM000673.1:g.2188717T>A	GRCh37
NC_000011.8:g.2145293T>A	NCBI36
NG_008128.1:g.9319A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.645-2A>T MANE Select	ENSP00000325951.4:n.645-2A>T
ENST00000324155.8:c.*334-2A>T	ENSP00000325831.3:n.*334-2A>T
ENST00000333684.9:c.645-2A>T	ENSP00000328814.6:n.645-2A>T
ENST00000352909.7:c.645-2A>T	ENSP00000325951.3:n.645-2A>T
ENST00000381168.7:c.*363A>T	ENSP00000370560.3:n.*363A>T
ENST00000381175.5:c.726-2A>T	ENSP00000370567.1:n.726-2A>T
ENST00000381178.5:c.738-2A>T	ENSP00000370571.1:n.738-2A>T
ENST00000412076.1:c.85-2A>T
ENST00000416223.5:c.85-2A>T
ENST00000469226.1:n.772A>T
NM_000360.3:c.645-2A>T	NP_000351.2:n.645-2A>T
NM_199292.2:c.738-2A>T	NP_954986.2:n.738-2A>T
NM_199293.2:c.726-2A>T	NP_954987.2:n.726-2A>T
XM_011520335.1:c.657-2A>T	XP_011518637.1:n.657-2A>T
XM_011520335.2:c.657-2A>T	XP_011518637.1:n.657-2A>T
NM_000360.4:c.645-2A>T MANE Select	NP_000351.2:n.645-2A>T
NM_199292.3:c.738-2A>T	NP_954986.2:n.738-2A>T
NM_199293.3:c.726-2A>T	NP_954987.2:n.726-2A>T