Canonical Allele Identifier: CA167136117
Gene: ATP6V0A4 HGNC NCBI

Linked Data

dbSNP Id: rs958969869

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138770961G>C , CM000669.2:g.138770961G>C GRCh38
NC_000007.13:g.138455706G>C , CM000669.1:g.138455706G>C GRCh37
NC_000007.12:g.138106246G>C NCBI36
NG_008145.1:g.32236C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.117+170C>G MANE Select ENSP00000308122.2:n.117+170C>G
ENST00000645515.1:c.117+170C>G ENSP00000496421.1:n.117+170C>G
ENST00000310018.6:c.117+170C>G ENSP00000308122.2:n.117+170C>G
ENST00000353492.4:c.117+170C>G ENSP00000253856.6:n.117+170C>G
ENST00000393054.5:c.117+170C>G ENSP00000376774.1:n.117+170C>G
ENST00000483139.1:n.366+170C>G
NM_020632.2:c.117+170C>G NP_065683.2:n.117+170C>G
NM_130840.2:c.117+170C>G NP_570855.2:n.117+170C>G
NM_130841.2:c.117+170C>G NP_570856.2:n.117+170C>G
XM_005250393.1:c.117+170C>G XP_005250450.1:n.117+170C>G
XM_005250394.2:c.117+170C>G XP_005250451.1:n.117+170C>G
XM_005250394.3:c.117+170C>G XP_005250451.1:n.117+170C>G
NM_020632.3:c.117+170C>G MANE Select NP_065683.2:n.117+170C>G
NM_130840.3:c.117+170C>G NP_570855.2:n.117+170C>G
NM_130841.3:c.117+170C>G NP_570856.2:n.117+170C>G