Canonical Allele Identifier: CA400964149

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916285T>G (hg19) ; chr17:g.74920190T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920190T>G , CM000679.2:g.74920190T>G	GRCh38
NC_000017.10:g.72916285T>G , CM000679.1:g.72916285T>G	GRCh37
NC_000017.9:g.70427880T>G	NCBI36
NG_007882.1:g.8067A>C
NG_033062.1:g.916T>G
NG_007882.2:g.8074A>C
NG_033062.2:g.916T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.646A>C MANE Select	ENSP00000480279.1:p.Met216Leu
ENST00000579243.1:c.*245A>C	ENSP00000462568.1:n.*245A>C
ENST00000614341.4:c.646A>C	ENSP00000480279.1:p.Met216Leu
NM_001282489.2:c.337A>C	NP_001269418.1:p.Met113Leu
NM_173477.4:c.646A>C	NP_775748.2:p.Met216Leu
XM_011524296.1:c.337A>C	XP_011522598.1:p.Met113Leu
XM_011524296.2:c.337A>C	XP_011522598.1:p.Met113Leu
NM_173477.5:c.646A>C MANE Select	NP_775748.2:p.Met216Leu
NM_001282489.3:c.337A>C	NP_001269418.1:p.Met113Leu