Canonical Allele Identifier: CA2615269375

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214736-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214736G>C , CM000673.2:g.77214736G>C	GRCh38
NC_000011.9:g.76925781G>C , CM000673.1:g.76925781G>C	GRCh37
NC_000011.8:g.76603429G>C	NCBI36
NG_009086.1:g.91472G>C
NG_009086.2:g.91491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*40G>C MANE Select	ENSP00000386331.3:n.*40G>C
ENST00000670577.1:c.4489G>C
ENST00000409619.6:c.*40G>C	ENSP00000386635.2:n.*40G>C
ENST00000409709.7:c.*40G>C	ENSP00000386331.3:n.*40G>C
ENST00000458169.2:c.4114G>C	ENSP00000417017.2:n.4114G>C
ENST00000458637.6:c.*40G>C	ENSP00000392185.2:n.*40G>C
ENST00000481328.7:n.5238G>C
ENST00000605744.1:n.2202G>C
NM_000260.3:c.*40G>C	NP_000251.3:n.*40G>C
NM_001127180.1:c.*40G>C	NP_001120652.1:n.*40G>C
XM_005274012.2:c.*40G>C	XP_005274069.1:n.*40G>C
XM_006718561.2:c.*40G>C	XP_006718624.1:n.*40G>C
XR_949941.1:n.6982G>C
XM_017017780.1:c.*40G>C	XP_016873269.1:n.*40G>C
XM_017017784.1:c.*40G>C	XP_016873273.1:n.*40G>C
XM_017017788.1:c.*40G>C	XP_016873277.1:n.*40G>C
XR_001747885.1:n.6767G>C
XR_001747887.1:n.6753G>C
NM_000260.4:c.*40G>C MANE Select	NP_000251.3:n.*40G>C
NM_001127180.2:c.*40G>C	NP_001120652.1:n.*40G>C
NM_001369365.1:c.*40G>C	NP_001356294.1:n.*40G>C