Canonical Allele Identifier: CA127009
Gene: SERPINA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 16975
ClinVar RCV Id: RCV000018496
dbSNP Id: rs28929488
ExAC: 14:94770808 C / T
gnomAD v2: 14-94770808-C-T
gnomAD v3: 14-94304471-C-T
gnomAD v4: 14-94304471-C-T
MyVariant Identifiers: chr14:g.94770808C>T (hg19) chr14:g.94304471C>T (hg38)
PubMed: PMID:10634411 PMID:12780753 PMID:17245537
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94304471C>T , CM000676.2:g.94304471C>T GRCh38
NC_000014.8:g.94770808C>T , CM000676.1:g.94770808C>T GRCh37
NC_000014.7:g.93840561C>T NCBI36
NG_011796.1:g.23881G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341584.4:c.1165G>A MANE Select ENSP00000342850.3:p.Asp389Asn
ENST00000341584.3:c.1165G>A ENSP00000342850.3:p.Asp389Asn
ENST00000555056.1:c.*477G>A ENSP00000451045.1:n.*477G>A
NM_001756.3:c.1165G>A NP_001747.2:p.Asp389Asn
NM_001756.4:c.1165G>A MANE Select NP_001747.3:p.Asp389Asn
Search 100 bp 5'
Search 100 bp 3'