Canonical Allele Identifier: CA823938125

Gene: AGER

Linked Data

• dbSNP Id: rs1419236937
• gnomAD v4: 6-32181289-G-A
• MyVariant Identifiers: chr6:g.32149066G>A (hg19) ; chr6:g.32181289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181289G>A , CM000668.2:g.32181289G>A	GRCh38
NC_000006.11:g.32149066G>A , CM000668.1:g.32149066G>A	GRCh37
NC_000006.10:g.32257044G>A	NCBI36
NG_029868.1:g.8034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1119-50C>T MANE Select	ENSP00000364217.4:n.1119-50C>T
ENST00000375055.6:c.*30-50C>T	ENSP00000364195.2:n.*30-50C>T
ENST00000375065.6:c.306-50C>T	ENSP00000364206.6:n.306-50C>T
ENST00000375067.7:c.964-50C>T	ENSP00000364208.3:n.964-50C>T
ENST00000375069.7:c.1167-50C>T	ENSP00000364210.4:n.1167-50C>T
ENST00000375070.7:c.789-50C>T	ENSP00000364211.4:n.789-50C>T
ENST00000375076.8:c.1119-50C>T	ENSP00000364217.4:n.1119-50C>T
ENST00000438221.6:c.*30-50C>T	ENSP00000387887.2:n.*30-50C>T
ENST00000469940.5:n.286-50C>T
ENST00000473619.5:n.661-50C>T
ENST00000484849.5:n.1326-50C>T
ENST00000488669.5:n.616-50C>T
ENST00000620802.4:c.366-50C>T	ENSP00000484081.1:n.366-50C>T
NM_001136.4:c.1119-50C>T	NP_001127.1:n.1119-50C>T
NM_001206929.1:c.1167-50C>T	NP_001193858.1:n.1167-50C>T
NM_001206932.1:c.1077-50C>T	NP_001193861.1:n.1077-50C>T
NM_001206934.1:c.*30-50C>T	NP_001193863.1:n.*30-50C>T
NM_001206936.1:c.1022-50C>T	NP_001193865.1:n.1022-50C>T
NM_001206940.1:c.*30-50C>T	NP_001193869.1:n.*30-50C>T
NM_001206954.1:c.932-50C>T	NP_001193883.1:n.932-50C>T
NM_001206966.1:c.*30-148C>T	NP_001193895.1:n.*30-148C>T
NM_172197.2:c.964-50C>T	NP_751947.1:n.964-50C>T
NR_038190.1:n.1402-50C>T
XM_017010328.2:c.1073-50C>T	XP_016865817.1:n.1073-50C>T
XR_001743189.2:n.1183-50C>T
XR_001743190.2:n.1135-50C>T
NM_001136.5:c.1119-50C>T MANE Select	NP_001127.1:n.1119-50C>T
NM_001206932.2:c.1077-50C>T	NP_001193861.1:n.1077-50C>T
NM_001206936.2:c.1022-50C>T	NP_001193865.1:n.1022-50C>T
NM_001206940.2:c.*30-50C>T	NP_001193869.1:n.*30-50C>T
NM_001206954.2:c.932-50C>T	NP_001193883.1:n.932-50C>T
NM_001206966.2:c.*30-148C>T	NP_001193895.1:n.*30-148C>T
NM_172197.3:c.964-50C>T	NP_751947.1:n.964-50C>T
NR_038190.2:n.1333-50C>T
NM_001206929.2:c.1167-50C>T	NP_001193858.1:n.1167-50C>T
NM_001206934.2:c.*30-50C>T	NP_001193863.1:n.*30-50C>T