Canonical Allele Identifier: CA50386240

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1609726
• ClinVar RCV Id: RCV002155315
• dbSNP Id: rs1005737478
• MyVariant Identifiers: chr2:g.73799558T>C (hg19) ; chr2:g.73572431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572431T>C , CM000664.2:g.73572431T>C	GRCh38
NC_000002.11:g.73799558T>C , CM000664.1:g.73799558T>C	GRCh37
NC_000002.10:g.73653066T>C	NCBI36
NG_011690.1:g.191679T>C , LRG_741:g.191679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10173T>C	ENSP00000507671.1:p.His3391=
ENST00000682801.1:c.10173T>C	ENSP00000507862.1:p.His3391=
ENST00000682859.1:c.10173T>C	ENSP00000508222.1:p.His3391=
ENST00000683791.1:c.3259T>C
ENST00000684460.1:c.7454T>C
ENST00000684548.1:c.10173T>C	ENSP00000507421.1:p.His3391=
ENST00000684590.1:c.4620T>C	ENSP00000507376.1:p.His1540=
ENST00000684656.1:c.7499T>C
ENST00000613296.6:c.10554T>C MANE Select	ENSP00000482968.1:p.His3518=
ENST00000651057.1:c.708T>C	ENSP00000498504.1:p.His236=
ENST00000651434.1:c.1910T>C
ENST00000652487.1:c.1651T>C
ENST00000423048.5:c.4045T>C	ENSP00000399833.1:n.4045T>C
ENST00000484298.5:c.10428T>C	ENSP00000478155.1:p.His3476=
ENST00000613296.4:c.10554T>C	ENSP00000482968.1:p.His3518=
ENST00000614410.4:c.10554T>C	ENSP00000479094.1:p.His3518=
ENST00000620466.4:n.4357T>C
NM_015120.4:c.10557T>C , LRG_741t1:c.10557T>C	NP_055935.4:p.His3519=
NM_001378454.1:c.10554T>C MANE Select	NP_001365383.1:p.His3518=