Canonical Allele Identifier: CA127007

Gene: SERPINA6

Linked Data

• ClinVar Variation Id: 16974
• ClinVar RCV Id: RCV000018495 ; RCV000479165 ; RCV003934839
• dbSNP Id: rs113418909
• ExAC: 14:94780642 A / T
• gnomAD v2: 14-94780642-A-T
• gnomAD v3: 14-94314305-A-T
• gnomAD v4: 14-94314305-A-T
• MyVariant Identifiers: chr14:g.94780642A>T (hg19) ; chr14:g.94314305A>T (hg38)
• PubMed: PMID:7061486 ; PMID:8212073

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94314305A>T , CM000676.2:g.94314305A>T	GRCh38
NC_000014.8:g.94780642A>T , CM000676.1:g.94780642A>T	GRCh37
NC_000014.7:g.93850395A>T	NCBI36
NG_011796.1:g.14047T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341584.4:c.344T>A MANE Select	ENSP00000342850.3:p.Leu115His
ENST00000341584.3:c.344T>A	ENSP00000342850.3:p.Leu115His
ENST00000555056.1:c.344T>A	ENSP00000451045.1:p.Leu115His
ENST00000557225.1:c.344T>A	ENSP00000452018.1:p.Leu115His
NM_001756.3:c.344T>A	NP_001747.2:p.Leu115His
NM_001756.4:c.344T>A MANE Select	NP_001747.3:p.Leu115His