Canonical Allele Identifier: CA2606481170

Gene: AADAT

Linked Data

• gnomAD v3: 4-170073883-A-C
• gnomAD v4: 4-170073883-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.170073883A>C , CM000666.2:g.170073883A>C	GRCh38
NC_000004.11:g.170995034A>C , CM000666.1:g.170995034A>C	GRCh37
NC_000004.10:g.171231609A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337664.9:c.445-538T>G MANE Select	ENSP00000336808.4:n.445-538T>G
ENST00000337664.8:c.445-538T>G	ENSP00000336808.4:n.445-538T>G
ENST00000353187.6:c.445-538T>G	ENSP00000226840.4:n.445-538T>G
ENST00000502392.1:c.445-538T>G	ENSP00000423843.1:n.445-538T>G
ENST00000505906.1:n.244-538T>G
ENST00000507375.5:c.445-538T>G	ENSP00000421389.1:n.445-538T>G
ENST00000509167.5:c.457-538T>G	ENSP00000423190.1:n.457-538T>G
ENST00000510340.5:c.418-538T>G	ENSP00000425067.1:n.418-538T>G
ENST00000515480.5:c.445-538T>G	ENSP00000423341.1:n.445-538T>G
NM_001286682.1:c.457-538T>G	NP_001273611.1:n.457-538T>G
NM_001286683.1:c.445-538T>G	NP_001273612.1:n.445-538T>G
NM_016228.3:c.445-538T>G	NP_057312.1:n.445-538T>G
NM_182662.1:c.445-538T>G	NP_872603.1:n.445-538T>G
XM_006714231.2:c.562-538T>G	XP_006714294.1:n.562-538T>G
XM_011532020.1:c.100-538T>G	XP_011530322.1:n.100-538T>G
XM_011532020.2:c.100-538T>G	XP_011530322.1:n.100-538T>G
XM_024454077.1:c.445-538T>G	XP_024309845.1:n.445-538T>G
NM_016228.4:c.445-538T>G MANE Select	NP_057312.1:n.445-538T>G
NM_001286682.2:c.457-538T>G	NP_001273611.1:n.457-538T>G
NM_182662.2:c.445-538T>G	NP_872603.1:n.445-538T>G