Canonical Allele Identifier: CA10376496
Gene: TASL HGNC NCBI

Linked Data

dbSNP Id: rs887369
gnomAD v2: X-30577846-A-T
gnomAD v3: X-30559729-A-T
gnomAD v4: X-30559729-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30559729A>T , CM000685.2:g.30559729A>T GRCh38
NC_000023.10:g.30577846A>T , CM000685.1:g.30577846A>T GRCh37
NC_000023.9:g.30487767A>T NCBI36
NG_016375.1:g.23188T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378962.4:c.627T>A MANE Select ENSP00000368245.3:p.Val209=
ENST00000378962.3:c.627T>A ENSP00000368245.3:p.Val209=
NM_025159.2:c.627T>A NP_079435.1:p.Val209=
NM_025159.3:c.627T>A MANE Select NP_079435.1:p.Val209=