Canonical Allele Identifier: CA1028505039

Gene: POMC

Linked Data

• dbSNP Id: rs1671321375
• gnomAD v3: 2-25160853-G-A
• gnomAD v4: 2-25160853-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25160853G>A , CM000664.2:g.25160853G>A	GRCh38
NC_000002.11:g.25383722G>A , CM000664.1:g.25383722G>A	GRCh37
NC_000002.10:g.25237226G>A	NCBI36
NG_008997.1:g.12838C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380794.5:c.*228C>T	ENSP00000370171.1:n.*228C>T
NM_000939.2:c.*228C>T	NP_000930.1:n.*228C>T
NM_001035256.1:c.*228C>T	NP_001030333.1:n.*228C>T
NM_000939.3:c.*228C>T	NP_000930.1:n.*228C>T
NM_001035256.2:c.*228C>T	NP_001030333.1:n.*228C>T
NM_001319204.1:c.*228C>T	NP_001306133.1:n.*228C>T
NM_001319205.1:c.*228C>T	NP_001306134.1:n.*228C>T