Canonical Allele Identifier: CA238786809

Gene: AVPR1A

Linked Data

• dbSNP Id: rs933565899
• gnomAD v2: 12-63540710-T-A
• gnomAD v3: 12-63146930-T-A
• gnomAD v4: 12-63146930-T-A
• MyVariant Identifiers: chr12:g.63540710T>A (hg19) ; chr12:g.63146930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63146930T>A , CM000674.2:g.63146930T>A	GRCh38
NC_000012.11:g.63540710T>A , CM000674.1:g.63540710T>A	GRCh37
NC_000012.10:g.61826977T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299178.4:c.*429A>T MANE Select	ENSP00000299178.3:n.*429A>T
ENST00000299178.3:c.*429A>T	ENSP00000299178.2:n.*429A>T
ENST00000550940.1:c.538+491A>T	ENSP00000449822.1:n.538+491A>T
NM_000706.4:c.*429A>T	NP_000697.1:n.*429A>T
XM_005269002.3:c.*429A>T	XP_005269059.1:n.*429A>T
NM_000706.5:c.*429A>T MANE Select	NP_000697.1:n.*429A>T