Canonical Allele Identifier: CA2685803565

Gene: SHH

Linked Data

• gnomAD v4: 7-155812193-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812193T>A , CM000669.2:g.155812193T>A	GRCh38
NC_000007.13:g.155604887T>A , CM000669.1:g.155604887T>A	GRCh37
NC_000007.12:g.155297648T>A	NCBI36
NG_007504.2:g.5081A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-71A>T MANE Select	ENSP00000297261.2:n.-71A>T
ENST00000297261.6:c.-71A>T	ENSP00000297261.2:n.-71A>T
NM_000193.2:c.-71A>T	NP_000184.1:n.-71A>T
NM_000193.3:c.-71A>T	NP_000184.1:n.-71A>T
NM_000193.4:c.-71A>T MANE Select	NP_000184.1:n.-71A>T