Canonical Allele Identifier: CA50377466

Gene: ALMS1

Linked Data

• dbSNP Id: rs1041583491
• gnomAD v3: 2-73489741-T-C
• gnomAD v4: 2-73489741-T-C
• MyVariant Identifiers: chr2:g.73716868T>C (hg19) ; chr2:g.73489741T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489741T>C , CM000664.2:g.73489741T>C	GRCh38
NC_000002.11:g.73716868T>C , CM000664.1:g.73716868T>C	GRCh37
NC_000002.10:g.73570376T>C	NCBI36
NG_011690.1:g.108989T>C , LRG_741:g.108989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7401T>C	ENSP00000507671.1:p.His2467=
ENST00000682801.1:c.7401T>C	ENSP00000507862.1:p.His2467=
ENST00000682859.1:c.7401T>C	ENSP00000508222.1:p.His2467=
ENST00000683791.1:c.793T>C
ENST00000684460.1:c.4853T>C
ENST00000684548.1:c.7401T>C	ENSP00000507421.1:p.His2467=
ENST00000684590.1:c.1848T>C	ENSP00000507376.1:p.His616=
ENST00000684656.1:c.4853T>C
ENST00000613296.6:c.7782T>C MANE Select	ENSP00000482968.1:p.His2594=
ENST00000651434.1:c.896-30034T>C
ENST00000423048.5:c.2613T>C	ENSP00000399833.1:p.His871=
ENST00000484298.5:c.7656T>C	ENSP00000478155.1:p.His2552=
ENST00000613296.4:c.7782T>C	ENSP00000482968.1:p.His2594=
ENST00000614410.4:c.7782T>C	ENSP00000479094.1:p.His2594=
ENST00000620466.4:n.1585T>C
NM_015120.4:c.7785T>C , LRG_741t1:c.7785T>C	NP_055935.4:p.His2595=
NM_001378454.1:c.7782T>C MANE Select	NP_001365383.1:p.His2594=