Canonical Allele Identifier: CA8760183

Gene: MRPS7 GGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75261966T>C , CM000679.2:g.75261966T>C	GRCh38
NC_000017.10:g.73258047T>C , CM000679.1:g.73258047T>C	GRCh37
NC_000017.9:g.70769642T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015971.4:c.66T>C (MRPS7) MANE Select	NP_057055.2:p.Ala22=
ENST00000245539.11:c.66T>C (MRPS7) MANE Select	ENSP00000245539.6:p.Ala22=
NM_001172703.2:c.-177+316A>G (GGA3)	NP_001166174.1:n.-177+316A>G
NM_001172703.3:c.-177+316A>G (GGA3)	NP_001166174.1:n.-177+316A>G
NM_001172704.2:c.-228+316A>G (GGA3)	NP_001166175.1:n.-228+316A>G
NM_001172704.3:c.-228+316A>G (GGA3)	NP_001166175.1:n.-228+316A>G
NM_015971.3:c.66T>C (MRPS7)	NP_057055.2:p.Ala22=
ENST00000245539.10:c.66T>C (MRPS7)	ENSP00000245539.6:p.Ala22=
ENST00000578348.5:c.-228+316A>G (GGA3)	ENSP00000463288.1:n.-228+316A>G
ENST00000579002.5:c.-361T>C (MRPS7)	ENSP00000463683.1:n.-361T>C
ENST00000579743.2:c.-346+316A>G (GGA3)	ENSP00000481953.1:n.-346+316A>G
ENST00000579761.5:c.66T>C (MRPS7)	ENSP00000463263.1:p.Ala22=
ENST00000582486.5:c.-177+316A>G (GGA3)	ENSP00000462629.1:n.-177+316A>G
ENST00000582717.5:c.-177+316A>G (GGA3)	ENSP00000462081.1:n.-177+316A>G
ENST00000583407.1:c.6T>C (MRPS7)	ENSP00000462677.1:p.Ala2=
XM_011524566.1:c.-346+316A>G (GGA3)	XP_011522868.1:n.-346+316A>G
XM_011524567.1:c.-177+316A>G (GGA3)	XP_011522869.1:n.-177+316A>G
XM_011524568.1:c.-228+316A>G (GGA3)	XP_011522870.1:n.-228+316A>G
XM_017024388.1:c.-346+316A>G (GGA3)	XP_016879877.1:n.-346+316A>G
XM_017024389.1:c.-177+316A>G (GGA3)	XP_016879878.1:n.-177+316A>G
XM_017024390.1:c.-228+316A>G (GGA3)	XP_016879879.1:n.-228+316A>G