Canonical Allele Identifier: CA238786788

Gene: AVPR1A

Linked Data

• dbSNP Id: rs184882304
• gnomAD v2: 12-63540411-A-G
• gnomAD v3: 12-63146631-A-G
• gnomAD v4: 12-63146631-A-G
• MyVariant Identifiers: chr12:g.63540411A>G (hg19) ; chr12:g.63146631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63146631A>G , CM000674.2:g.63146631A>G	GRCh38
NC_000012.11:g.63540411A>G , CM000674.1:g.63540411A>G	GRCh37
NC_000012.10:g.61826678A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299178.4:c.*728T>C MANE Select	ENSP00000299178.3:n.*728T>C
ENST00000299178.3:c.*728T>C	ENSP00000299178.2:n.*728T>C
ENST00000550940.1:c.538+790T>C	ENSP00000449822.1:n.538+790T>C
NM_000706.4:c.*728T>C	NP_000697.1:n.*728T>C
XM_005269002.3:c.*728T>C	XP_005269059.1:n.*728T>C
NM_000706.5:c.*728T>C MANE Select	NP_000697.1:n.*728T>C