Canonical Allele Identifier: CA1630834986
Community Standard Title: NM_020632.3(ATP6V0A4):c.1739T= (p.Met580=)
Gene: ATP6V0A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138733046A= , CM000669.2:g.138733046A= GRCh38
NC_000007.13:g.138417791A= , CM000669.1:g.138417791A= GRCh37
NC_000007.12:g.138068331A= NCBI36
NG_008145.1:g.70151T=

Transcript Alleles

HGVS Amino-acid Change
NM_020632.3:c.1739T= MANE Select NP_065683.2:p.Met580=
ENST00000310018.7:c.1739T= MANE Select ENSP00000308122.2:p.Met580=
NM_020632.2:c.1739T= NP_065683.2:p.Met580=
NM_130840.2:c.1739T= NP_570855.2:p.Met580=
NM_130840.3:c.1739T= NP_570855.2:p.Met580=
NM_130841.2:c.1739T= NP_570856.2:p.Met580=
NM_130841.3:c.1739T= NP_570856.2:p.Met580=
ENST00000310018.6:c.1739T= ENSP00000308122.2:p.Met580=
ENST00000353492.4:c.1739T= ENSP00000253856.6:p.Met580=
ENST00000393054.5:c.1739T= ENSP00000376774.1:p.Met580=
ENST00000478480.2:c.965T= ENSP00000495261.1:p.Met322=
ENST00000644341.1:c.965T= ENSP00000495642.1:p.Met322=
ENST00000645515.1:c.1739T= ENSP00000496421.1:p.Met580=
ENST00000647427.1:c.632T= ENSP00000496259.1:p.Met211=
XM_005250393.1:c.1739T= XP_005250450.1:p.Met580=
XM_005250394.2:c.1739T= XP_005250451.1:p.Met580=
XM_005250394.3:c.1739T= XP_005250451.1:p.Met580=