Canonical Allele Identifier: CA109980901

Gene: AADAT

Linked Data

• dbSNP Id: rs963660
• gnomAD v2: 4-170995066-C-T
• gnomAD v3: 4-170073915-C-T
• gnomAD v4: 4-170073915-C-T
• MyVariant Identifiers: chr4:g.170995066C>T (hg19) ; chr4:g.170073915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.170073915C>T , CM000666.2:g.170073915C>T	GRCh38
NC_000004.11:g.170995066C>T , CM000666.1:g.170995066C>T	GRCh37
NC_000004.10:g.171231641C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337664.9:c.445-570G>A MANE Select	ENSP00000336808.4:n.445-570G>A
ENST00000337664.8:c.445-570G>A	ENSP00000336808.4:n.445-570G>A
ENST00000353187.6:c.445-570G>A	ENSP00000226840.4:n.445-570G>A
ENST00000502392.1:c.445-570G>A	ENSP00000423843.1:n.445-570G>A
ENST00000505906.1:n.244-570G>A
ENST00000507375.5:c.445-570G>A	ENSP00000421389.1:n.445-570G>A
ENST00000509167.5:c.457-570G>A	ENSP00000423190.1:n.457-570G>A
ENST00000510340.5:c.418-570G>A	ENSP00000425067.1:n.418-570G>A
ENST00000515480.5:c.445-570G>A	ENSP00000423341.1:n.445-570G>A
NM_001286682.1:c.457-570G>A	NP_001273611.1:n.457-570G>A
NM_001286683.1:c.445-570G>A	NP_001273612.1:n.445-570G>A
NM_016228.3:c.445-570G>A	NP_057312.1:n.445-570G>A
NM_182662.1:c.445-570G>A	NP_872603.1:n.445-570G>A
XM_006714231.2:c.562-570G>A	XP_006714294.1:n.562-570G>A
XM_011532020.1:c.100-570G>A	XP_011530322.1:n.100-570G>A
XM_011532020.2:c.100-570G>A	XP_011530322.1:n.100-570G>A
XM_024454077.1:c.445-570G>A	XP_024309845.1:n.445-570G>A
NM_016228.4:c.445-570G>A MANE Select	NP_057312.1:n.445-570G>A
NM_001286682.2:c.457-570G>A	NP_001273611.1:n.457-570G>A
NM_182662.2:c.445-570G>A	NP_872603.1:n.445-570G>A