Canonical Allele Identifier: CA2778106497

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762275A>G , CM000669.2:g.138762275A>G	GRCh38
NC_000007.13:g.138447020A>G , CM000669.1:g.138447020A>G	GRCh37
NC_000007.12:g.138097560A>G	NCBI36
NG_008145.1:g.40922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.512+65T>C MANE Select	ENSP00000308122.2:n.512+65T>C
ENST00000645515.1:c.512+65T>C	ENSP00000496421.1:n.512+65T>C
ENST00000310018.6:c.512+65T>C	ENSP00000308122.2:n.512+65T>C
ENST00000353492.4:c.512+65T>C	ENSP00000253856.6:n.512+65T>C
ENST00000393054.5:c.512+65T>C	ENSP00000376774.1:n.512+65T>C
ENST00000483139.1:n.761+65T>C
NM_020632.2:c.512+65T>C	NP_065683.2:n.512+65T>C
NM_130840.2:c.512+65T>C	NP_570855.2:n.512+65T>C
NM_130841.2:c.512+65T>C	NP_570856.2:n.512+65T>C
XM_005250393.1:c.512+65T>C	XP_005250450.1:n.512+65T>C
XM_005250394.2:c.512+65T>C	XP_005250451.1:n.512+65T>C
XM_005250394.3:c.512+65T>C	XP_005250451.1:n.512+65T>C
NM_020632.3:c.512+65T>C MANE Select	NP_065683.2:n.512+65T>C
NM_130840.3:c.512+65T>C	NP_570855.2:n.512+65T>C
NM_130841.3:c.512+65T>C	NP_570856.2:n.512+65T>C