Canonical Allele Identifier: CA107683034

Gene: MMAA

Linked Data

• dbSNP Id: rs376638496
• gnomAD v3: 4-145655125-C-G
• gnomAD v4: 4-145655125-C-G
• MyVariant Identifiers: chr4:g.146576277C>G (hg19) ; chr4:g.145655125C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655125C>G , CM000666.2:g.145655125C>G	GRCh38
NC_000004.11:g.146576277C>G , CM000666.1:g.146576277C>G	GRCh37
NC_000004.10:g.146795727C>G	NCBI36
NG_007536.1:g.40828C>G
NG_007536.2:g.61084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.970-22C>G	ENSP00000442284.3:n.970-22C>G
ENST00000647947.1:c.*754-22C>G	ENSP00000496781.1:n.*754-22C>G
ENST00000648388.1:c.970-22C>G	ENSP00000497046.1:n.970-22C>G
ENST00000649156.2:c.970-22C>G MANE Select	ENSP00000497008.1:n.970-22C>G
ENST00000649173.1:c.904-22C>G	ENSP00000497871.1:n.904-22C>G
ENST00000649704.1:c.970-22C>G	ENSP00000497680.1:n.970-22C>G
ENST00000679563.1:c.970-22C>G	ENSP00000506503.1:n.970-22C>G
ENST00000679930.1:c.*489-22C>G	ENSP00000506293.1:n.*489-22C>G
ENST00000281317.9:c.970-22C>G	ENSP00000281317.5:n.970-22C>G
ENST00000503730.1:n.380-22C>G
ENST00000511969.4:c.*101-22C>G	ENSP00000427422.1:n.*101-22C>G
ENST00000541599.4:c.970-22C>G	ENSP00000442284.2:n.970-22C>G
NM_172250.2:c.970-22C>G	NP_758454.1:n.970-22C>G
XM_011531684.1:c.970-22C>G	XP_011529986.1:n.970-22C>G
XM_011531685.1:c.970-22C>G	XP_011529987.1:n.970-22C>G
XM_011531686.1:c.475-22C>G	XP_011529988.1:n.475-22C>G
NM_172250.3:c.970-22C>G MANE Select	NP_758454.1:n.970-22C>G
XM_011531684.3:c.970-22C>G	XP_011529986.1:n.970-22C>G
XM_011531685.2:c.970-22C>G	XP_011529987.1:n.970-22C>G
XM_011531686.2:c.475-22C>G	XP_011529988.1:n.475-22C>G
NM_001375644.1:c.970-22C>G	NP_001362573.1:n.970-22C>G