Canonical Allele Identifier: CA556462585

Gene: AADAT

Linked Data

• dbSNP Id: rs1467639581
• gnomAD v2: 4-170995089-C-A
• gnomAD v3: 4-170073938-C-A
• gnomAD v4: 4-170073938-C-A
• MyVariant Identifiers: chr4:g.170995089C>A (hg19) ; chr4:g.170073938C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.170073938C>A , CM000666.2:g.170073938C>A	GRCh38
NC_000004.11:g.170995089C>A , CM000666.1:g.170995089C>A	GRCh37
NC_000004.10:g.171231664C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337664.9:c.445-593G>T MANE Select	ENSP00000336808.4:n.445-593G>T
ENST00000337664.8:c.445-593G>T	ENSP00000336808.4:n.445-593G>T
ENST00000353187.6:c.445-593G>T	ENSP00000226840.4:n.445-593G>T
ENST00000502392.1:c.445-593G>T	ENSP00000423843.1:n.445-593G>T
ENST00000505906.1:n.244-593G>T
ENST00000507375.5:c.445-593G>T	ENSP00000421389.1:n.445-593G>T
ENST00000509167.5:c.457-593G>T	ENSP00000423190.1:n.457-593G>T
ENST00000510340.5:c.418-593G>T	ENSP00000425067.1:n.418-593G>T
ENST00000515480.5:c.445-593G>T	ENSP00000423341.1:n.445-593G>T
NM_001286682.1:c.457-593G>T	NP_001273611.1:n.457-593G>T
NM_001286683.1:c.445-593G>T	NP_001273612.1:n.445-593G>T
NM_016228.3:c.445-593G>T	NP_057312.1:n.445-593G>T
NM_182662.1:c.445-593G>T	NP_872603.1:n.445-593G>T
XM_006714231.2:c.562-593G>T	XP_006714294.1:n.562-593G>T
XM_011532020.1:c.100-593G>T	XP_011530322.1:n.100-593G>T
XM_011532020.2:c.100-593G>T	XP_011530322.1:n.100-593G>T
XM_024454077.1:c.445-593G>T	XP_024309845.1:n.445-593G>T
NM_016228.4:c.445-593G>T MANE Select	NP_057312.1:n.445-593G>T
NM_001286682.2:c.457-593G>T	NP_001273611.1:n.457-593G>T
NM_182662.2:c.445-593G>T	NP_872603.1:n.445-593G>T